Conditions List

Conditions Screened by Fore | Fore Genomics Condition List

Conditions Screened by Fore

Fore provides genetic health screening for conditions where early insight can make a lasting difference for your child.

17 Body & Organ Systems2,199 Genetic ConditionsPediatric OnsetEvidence Based

Far more than standard screening

Why a comprehensive condition list matters

Standard newborn screening covers only a small fraction of treatable genetic conditions. Fore uses whole-genome sequencing to screen for 2,199 conditions across 17 body systems, giving families and providers a far more complete picture of a child's health from the very beginning.

Our team of scientists, physicians, geneticists, genetic counselors, and ethicists carefully weighs several factors when selecting the conditions we include: the potential health benefit, the public-health need, and the ability to improve outcomes in infants and young children who are predisposed to or already showing signs of a condition. The goal is early detection, intervention, and management, shifting care from reactive to proactive.

1Health benefitWe prioritize conditions where early knowledge can meaningfully change monitoring, prevention, or treatment for a child.

2Pediatric onsetThe list focuses on conditions that present in infancy or childhood, where early action matters most.

3Evidence basedEach condition is supported by an established gene–disease association, graded for clinical validity and revisited as the science evolves.

4Actionable insightResults help providers and parents make informed, personalized decisions based on a child's unique genetic makeup.

Browse the conditions we screen for

Search a condition, or select a body system below

Looking for a specific gene? See the full Gene List & Pharmacogenomics.

Select a body system above to view its conditions, or search for a specific condition.

Conditions List:

Autism & Neurodevelopmental Disorders

Acromelic frontonasal dysostosis

Al-Raqad syndrome

Alacrima, achalasia, and impaired intellectual development syndrome

Alazami syndrome

Alopecia-intellectual disability syndrome 1

Alopecia-intellectual disability syndrome 4

Angelman syndrome

Auriculocondylar syndrome 4

Autism, susceptibility to, 15

Autism, susceptibility to, 16

Autism, susceptibility to, 17

Autism, susceptibility to, 19

Autism, susceptibility to, 20

Autism, susceptibility to, X-linked 1

Autism, susceptibility to, X-linked 2

Autism, susceptibility to, X-linked 3

Autism, susceptibility to, X-linked 4

Autism, susceptibility to, X-linked 5

Autism, susceptibility to, X-linked 6

Blepharophimosis-impaired intellectual development syndrome

CASGID syndrome

CATIFA syndrome

CEBALID syndrome

CHARGE syndrome

CIMDAG syndrome

Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism

Chromosome 2q37 deletion syndrome

Cleft palate, cardiac defects, and impaired intellectual development

Coffin-Lowry syndrome

Coffin-Siris syndrome 1

Coffin-Siris syndrome 10

Coffin-Siris syndrome 11

Coffin-Siris syndrome 12

Coffin-Siris syndrome 2

Coffin-Siris syndrome 3

Coffin-Siris syndrome 4

Coffin-Siris syndrome 5

Coffin-Siris syndrome 6

Coffin-Siris syndrome 7

Coffin-Siris syndrome 8

Coffin-Siris syndrome 9

Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development

Combined oxidative phosphorylation deficiency 24

Combined oxidative phosphorylation deficiency 35

Cowden syndrome 1

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 2

Craniosynostosis 3

Craniosynostosis 4

Craniosynostosis 6

Craniosynostosis 7, susceptibility to

DOORS syndrome

Deafness, cataract, impaired intellectual development, and polyneuropathy

Developmental delay with or without dysmorphic facies and autism

Developmental delay with variable intellectual disability and dysmorphic facies

Developmental delay with variable intellectual impairment and behavioral abnormalities

Developmental delay, hypotonia, and impaired language

Developmental delay, intellectual disability, obesity, and dysmorphism (Chung-Jansen syndrome)

DiGeorge syndrome

Dias-Logan syndrome

Epilepsy, focal, with speech disorder and with or without impaired intellectual development

FG syndrome 1 (Opitz-Kaveggia syndrome)

FG syndrome 4

FICUS syndrome

Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome

Fragile X syndrome

Global developmental delay, progressive ataxia, and elevated glutamine

Growth retardation, impaired intellectual development, hypotonia, and hepatopathy

Helsmoortel-van der Aa syndrome

Heyn-Sproul-Jackson syndrome

Houge-Janssens syndrome 1

Houge-Janssens syndrome 2

Houge-Janssens syndrome 3

Houge-Janssens syndrome 4

Hyperphosphatasia with impaired intellectual development syndrome 1

Hyperphosphatasia with impaired intellectual development syndrome 2

Hyperphosphatasia with impaired intellectual development syndrome 3

Hyperphosphatasia with impaired intellectual development syndrome 4

Hyperphosphatasia with impaired intellectual development syndrome 5

Hyperphosphatasia with impaired intellectual development syndrome 6

Hypomagnesemia, seizures, and impaired intellectual development 1

Hypomagnesemia, seizures, and impaired intellectual development 2

Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities

Impaired intellectual development and distinctive facial features with or without cardiac defects

Impaired intellectual development, anterior maxillary protrusion, and strabismus

Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome

Intellectual developmental disorder and hypogonadotropic hypogonadism (BDV syndrome)

Intellectual developmental disorder and retinitis pigmentosa

Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature

Intellectual developmental disorder with autism and dysmorphic facies

Intellectual developmental disorder with autism and macrocephaly

Intellectual developmental disorder with autism and speech delay

Intellectual developmental disorder with autistic features and language delay, with or without seizures

Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures

Intellectual developmental disorder with distinctive facial dysmorphism (Diets-Jongmans syndrome)

Intellectual developmental disorder with dysmorphic facies and ptosis

Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities

Intellectual developmental disorder with dysmorphicfacies and behavioral abnormalities

Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies

Intellectual developmental disorder with hypertelorism and distinctive facies

Intellectual developmental disorder with hypotonia and behavioral abnormalities

Intellectual developmental disorder with impaired language and dysmorphic facies

Intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies (Hao-Fountain syndrome)

Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism

Intellectual developmental disorder with language impairment, with or without autistic features

Intellectual developmental disorder with macrocephaly, seizures, and speech delay

Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects

Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies

Intellectual developmental disorder with neuropsychiatric features

Intellectual developmental disorder with ocular anomalies and distinctive facial features

Intellectual developmental disorder with or without epilepsy or cerebellar ataxia

Intellectual developmental disorder with or without peripheral neuropathy

Intellectual developmental disorder with paroxysmal dyskinesia or seizures

Intellectual developmental disorder with polymicrogyria and seizures

Intellectual developmental disorder with poor growth and with or without seizures or ataxia

Intellectual developmental disorder with seizures and language delay

Intellectual developmental disorder with severe speech and ambulation defects

Intellectual developmental disorder with short stature and behavioral abnormalities

Intellectual developmental disorder with short stature and variable skeletal anomalies

Intellectual developmental disorder with short stature, facial anomalies, and speech defects

Intellectual developmental disorder with speech delay and axonal peripheral neuropathy

Intellectual developmental disorder with speech delay, autism, and dysmorphic facies

Intellectual developmental disorder, X-linked 1

Intellectual developmental disorder, X-linked 100

Intellectual developmental disorder, X-linked 101

Intellectual developmental disorder, X-linked 103

Intellectual developmental disorder, X-linked 104

Intellectual developmental disorder, X-linked 105

Intellectual developmental disorder, X-linked 106

Intellectual developmental disorder, X-linked 107

Intellectual developmental disorder, X-linked 108

Intellectual developmental disorder, X-linked 109

Intellectual developmental disorder, X-linked 110

Intellectual developmental disorder, X-linked 111

Intellectual developmental disorder, X-linked 112

Intellectual developmental disorder, X-linked 113

Intellectual developmental disorder, X-linked 114

Intellectual developmental disorder, X-linked 15 (Raynaud-Claes syndrome)

Intellectual developmental disorder, X-linked 19

Intellectual developmental disorder, X-linked 21

Intellectual developmental disorder, X-linked 29

Intellectual developmental disorder, X-linked 30

Intellectual developmental disorder, X-linked 41

Intellectual developmental disorder, X-linked 50

Intellectual developmental disorder, X-linked 58

Intellectual developmental disorder, X-linked 61 (Tonne-Kalscheuer syndrome)

Intellectual developmental disorder, X-linked 63

Intellectual developmental disorder, X-linked 72

Intellectual developmental disorder, X-linked 9

Intellectual developmental disorder, X-linked 90

Intellectual developmental disorder, X-linked 93

Intellectual developmental disorder, X-linked 96

Intellectual developmental disorder, X-linked 97

Intellectual developmental disorder, X-linked 98

Intellectual developmental disorder, X-linked 99

Intellectual developmental disorder, X-linked syndromic 1 (Partington syndrome)

Intellectual developmental disorder, X-linked syndromic 13

Intellectual developmental disorder, X-linked syndromic 14

Intellectual developmental disorder, X-linked syndromic 2 (Prieto syndrome)

Intellectual developmental disorder, X-linked syndromic 28

Intellectual developmental disorder, X-linked syndromic 33

Intellectual developmental disorder, X-linked syndromic 34

Intellectual developmental disorder, X-linked syndromic 35

Intellectual developmental disorder, X-linked syndromic 37

Intellectual developmental disorder, X-linked syndromic 4 (Wieacker-Wolff syndrome)

Intellectual developmental disorder, X-linked syndromic 99, female-restricted

Intellectual developmental disorder, X-linked syndromic, Armfield type

Intellectual developmental disorder, X-linked syndromic, Arts type

Intellectual developmental disorder, X-linked syndromic, Bain type

Intellectual developmental disorder, X-linked syndromic, Basilicata-Akhtar type

Intellectual developmental disorder, X-linked syndromic, Billuart type

Intellectual developmental disorder, X-linked syndromic, Borck type (MEHMO syndrome)

Intellectual developmental disorder, X-linked syndromic, Borjeson-Forssman-Lehmann type

Intellectual developmental disorder, X-linked syndromic, Cabezas type

Intellectual developmental disorder, X-linked syndromic, Christianson type

Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type

Intellectual developmental disorder, X-linked syndromic, Fried type (Pettigrew syndrome)

Intellectual developmental disorder, X-linked syndromic, Gustavson type

Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type

Intellectual developmental disorder, X-linked syndromic, Hedera type

Intellectual developmental disorder, X-linked syndromic, Houge type

Intellectual developmental disorder, X-linked syndromic, Kumar type

Intellectual developmental disorder, X-linked syndromic, Lubs type

Intellectual developmental disorder, X-linked syndromic, Lujan-Fryns type

Intellectual developmental disorder, X-linked syndromic, Najm type

Intellectual developmental disorder, X-linked syndromic, Nascimento type

Intellectual developmental disorder, X-linked syndromic, Paganini-Miozzo type

Intellectual developmental disorder, X-linked syndromic, Pilorge type

Intellectual developmental disorder, X-linked syndromic, Raymond type

Intellectual developmental disorder, X-linked syndromic, Renpenning type

Intellectual developmental disorder, X-linked syndromic, Shashi type

Intellectual developmental disorder, X-linked syndromic, Siderius type

Intellectual developmental disorder, X-linked syndromic, Snijders Blok type

Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type

Intellectual developmental disorder, X-linked syndromic, Turner type

Intellectual developmental disorder, X-linked syndromic, Van Esch-O'Driscoll type

Intellectual developmental disorder, X-linked syndromic, Wilson-Turner type

Intellectual developmental disorder, X-linked syndromic, Wu type

Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies

Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency

Intellectual developmental disorder, autosomal dominant 1

Intellectual developmental disorder, autosomal dominant 10

Intellectual developmental disorder, autosomal dominant 11

Intellectual developmental disorder, autosomal dominant 17 (Schuurs-Hoeijmakers syndrome)

Intellectual developmental disorder, autosomal dominant 18 (GAND syndrome)

Intellectual developmental disorder, autosomal dominant 21

Intellectual developmental disorder, autosomal dominant 22

Intellectual developmental disorder, autosomal dominant 23

Intellectual developmental disorder, autosomal dominant 24 (Vulto-van Silfout-de Vries syndrome)

Intellectual developmental disorder, autosomal dominant 26

Intellectual developmental disorder, autosomal dominant 29

Intellectual developmental disorder, autosomal dominant 3

Intellectual developmental disorder, autosomal dominant 30

Intellectual developmental disorder, autosomal dominant 33

Intellectual developmental disorder, autosomal dominant 34

Intellectual developmental disorder, autosomal dominant 37 (White-Sutton syndrome)

Intellectual developmental disorder, autosomal dominant 38

Intellectual developmental disorder, autosomal dominant 39

Intellectual developmental disorder, autosomal dominant 41

Intellectual developmental disorder, autosomal dominant 42

Intellectual developmental disorder, autosomal dominant 43

Intellectual developmental disorder, autosomal dominant 44, with microcephaly

Intellectual developmental disorder, autosomal dominant 45

Intellectual developmental disorder, autosomal dominant 46

Intellectual developmental disorder, autosomal dominant 47

Intellectual developmental disorder, autosomal dominant 48

Intellectual developmental disorder, autosomal dominant 49 (Clark-Baraitser syndrome)

Intellectual developmental disorder, autosomal dominant 5

Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities

Intellectual developmental disorder, autosomal dominant 51

Intellectual developmental disorder, autosomal dominant 52

Intellectual developmental disorder, autosomal dominant 53

Intellectual developmental disorder, autosomal dominant 54

Intellectual developmental disorder, autosomal dominant 55, with seizures

Intellectual developmental disorder, autosomal dominant 56

Intellectual developmental disorder, autosomal dominant 57

Intellectual developmental disorder, autosomal dominant 58

Intellectual developmental disorder, autosomal dominant 59

Intellectual developmental disorder, autosomal dominant 6, with or without seizures

Intellectual developmental disorder, autosomal dominant 60, with seizures

Intellectual developmental disorder, autosomal dominant 61

Intellectual developmental disorder, autosomal dominant 62

Intellectual developmental disorder, autosomal dominant 63, with macrocephaly

Intellectual developmental disorder, autosomal dominant 64

Intellectual developmental disorder, autosomal dominant 65

Intellectual developmental disorder, autosomal dominant 66

Intellectual developmental disorder, autosomal dominant 67

Intellectual developmental disorder, autosomal dominant 68

Intellectual developmental disorder, autosomal dominant 69

Intellectual developmental disorder, autosomal dominant 7

Intellectual developmental disorder, autosomal dominant 70

Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities

Intellectual developmental disorder, autosomal dominant 72

Intellectual developmental disorder, autosomal dominant 73

Intellectual developmental disorder, autosomal dominant 74

Intellectual developmental disorder, autosomal dominant 75

Intellectual developmental disorder, autosomal dominant 76

Intellectual developmental disorder, autosomal dominant, FRA12A type

Intellectual developmental disorder, autosomal recessive 1

Intellectual developmental disorder, autosomal recessive 12

Intellectual developmental disorder, autosomal recessive 13

Intellectual developmental disorder, autosomal recessive 14

Intellectual developmental disorder, autosomal recessive 15 (Rafiq syndrome)

Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy

Intellectual developmental disorder, autosomal recessive 2

Intellectual developmental disorder, autosomal recessive 27

Intellectual developmental disorder, autosomal recessive 3

Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly

Intellectual developmental disorder, autosomal recessive 36

Intellectual developmental disorder, autosomal recessive 37

Intellectual developmental disorder, autosomal recessive 38

Intellectual developmental disorder, autosomal recessive 39

Intellectual developmental disorder, autosomal recessive 40

Intellectual developmental disorder, autosomal recessive 41

Intellectual developmental disorder, autosomal recessive 43

Intellectual developmental disorder, autosomal recessive 44

Intellectual developmental disorder, autosomal recessive 45

Intellectual developmental disorder, autosomal recessive 46

Intellectual developmental disorder, autosomal recessive 47

Intellectual developmental disorder, autosomal recessive 48

Intellectual developmental disorder, autosomal recessive 5

Intellectual developmental disorder, autosomal recessive 50

Intellectual developmental disorder, autosomal recessive 51

Intellectual developmental disorder, autosomal recessive 52

Intellectual developmental disorder, autosomal recessive 54

Intellectual developmental disorder, autosomal recessive 56

Intellectual developmental disorder, autosomal recessive 57

Intellectual developmental disorder, autosomal recessive 58

Intellectual developmental disorder, autosomal recessive 59

Intellectual developmental disorder, autosomal recessive 6

Intellectual developmental disorder, autosomal recessive 60

Intellectual developmental disorder, autosomal recessive 61

Intellectual developmental disorder, autosomal recessive 62 (Glycosylphosphatidylinositol biosynthesis defect 16)

Intellectual developmental disorder, autosomal recessive 63

Intellectual developmental disorder, autosomal recessive 64

Intellectual developmental disorder, autosomal recessive 65

Intellectual developmental disorder, autosomal recessive 66

Intellectual developmental disorder, autosomal recessive 67

Intellectual developmental disorder, autosomal recessive 68

Intellectual developmental disorder, autosomal recessive 69

Intellectual developmental disorder, autosomal recessive 7

Intellectual developmental disorder, autosomal recessive 70

Intellectual developmental disorder, autosomal recessive 71

Intellectual developmental disorder, autosomal recessive 72

Intellectual developmental disorder, autosomal recessive 73

Intellectual developmental disorder, autosomal recessive 74

Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly

Intellectual developmental disorder, autosomal recessive 76

Intellectual developmental disorder, autosomal recessive 77

Intellectual developmental disorder, autosomal recessive 78

Intellectual developmental disorder, autosomal recessive 79

Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly

Intellectual developmental disorder, autosomal recessive 81

Intellectual developmental disorder, autosomal recessive 82

Intellectual developmental disorder, autosomal recessive 83

Intellectual disability and myopathy syndrome

Intellectual disability-hypotonic facies syndrome, X-linked

Jeffries-Lakhani neurodevelopmental syndrome

Joubert syndrome 1

Joubert syndrome 2

Joubert syndrome 25

Joubert syndrome 27

Joubert syndrome 28

Joubert syndrome 32

KBG syndrome

Kaufman oculocerebrofacial syndrome

Keipert syndrome

Kleefstra syndrome 1

Kleefstra syndrome 2

Koolen-De Vries syndrome

Leigh syndrome, mitochondrial

Leigh syndrome, nuclear

Lesch-Nyhan syndrome

Lissencephaly, X-linked 2

Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia

Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia

Luscan-Lumish syndrome

Macrocephaly, acquired, with impaired intellectual development

Macrocephaly/autism syndrome

Martsolf syndrome 1

Martsolf syndrome 2

Megalencephalic leukoencephalopathy with subcortical cysts 2A

Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development

Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development

Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum

Multiple congenital anomalies-hypotonia-seizures syndrome 2

Myhre syndrome

Neurodevelopmental disorder with absent speech, impaired intellectual development, and autism (El Hayek-Chahrour neurodevelopmental syndrome)

Neurodevelopmental disorder with absent language and variable seizures

Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia

Neurodevelopmental disorder with central and peripheral motor dysfunction

Neurodevelopmental disorder with central hypotonia and dysmorphic facies

Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1

Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 2 (Jaberi-Elahi syndrome)

Neurodevelopmental disorder with developmental delay and with or without motor or speech delay

Neurodevelopmental disorder with dystonia and seizures

Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities

Neurodevelopmental disorder with epilepsy and hemochromatosis

Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements

Neurodevelopmental disorder with hypotonia and gross motor and speech delay

Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures

Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures

Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features

Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures

Neurodevelopmental disorder with hypotonia, seizures, and absent language

Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia

Neurodevelopmental disorder with impaired language and ataxia and with or without seizures

Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia

Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features

Neurodevelopmental disorder with or without autism or seizures

Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities

Neurodevelopmental disorder with or without early-onset generalized epilepsy

Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive

Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy

Neurodevelopmental disorder with spastic diplegia and visual defects

Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies (Halperin-Birk syndrome)

Neurodevelopmental disorder with spasticity, facial dysmorphism, and brain abnormalities (Hengel-Maroofian-Schols syndrome)

Neurodevelopmental disorder with speech delay and variable ocular anomalies

Neurodevelopmental disorder with speech impairment and dysmorphic facies

Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures

Nicolaides-Baraitser syndrome

O'Donnell-Luria-Rodan syndrome

Ogden syndrome

Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome

Phelan-McDermid syndrome

Polydactyly-macrocephaly syndrome

Prader-Willi syndrome

Proud syndrome

Rabin-Pappas syndrome

Rett syndrome

Ritscher-Schinzel syndrome 1

Ritscher-Schinzel syndrome 2

Ritscher-Schinzel syndrome 3

Ritscher-Schinzel syndrome 4

SESAME syndrome

Schinzel-Giedion midface retraction syndrome

Short stature, brachydactyly, intellectual developmental disability, and seizures

Skraban-Deardorff syndrome

Smith-Kingsmore syndrome

Sotos syndrome

Spastic paraplegia, intellectual disability, nystagmus, and obesity

Structural brain anomalies with impaired intellectual development and craniosynostosis

TIMES syndrome

Tatton-Brown-Rahman syndrome

Timothy syndrome

Tolchin-Le Caignec syndrome

Tuberous sclerosis 1

Tuberous sclerosis 2

Velocardiofacial syndrome

Waisman syndrome

Warburg micro syndrome 1

Warburg micro syndrome 2

Warburg micro syndrome 3

Warburg micro syndrome 4

ZTTK syndrome

Conditions List:

Neurology

Acute intermittent porphyria

Alexander disease

Alpha-methylacyl-CoA racemase deficiency

Alpha-thalassemia/impaired intellectual development syndrome

Alternating hemiplegia of childhood 1

Alternating hemiplegia of childhood 2

Amyotrophic lateral sclerosis 28

Anemia, sideroblastic, and spinocerebellar ataxia

Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development

Arthrogryposis, impaired intellectual development, and seizures

Asparagine synthetase deficiency

Aspartylglucosaminuria

Ataxia with isolated vitamin E deficiency

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

Ataxia-pancytopenia syndrome

Ataxia-telangiectasia

Bainbridge-Ropers syndrome

Basal ganglia calcification, idiopathic, 1

Basal ganglia calcification, idiopathic, 10, autosomal recessive

Basal ganglia calcification, idiopathic, 4

Basal ganglia calcification, idiopathic, 5

Basal ganglia calcification, idiopathic, 6

Basal ganglia calcification, idiopathic, 7, autosomal recessive

Basal ganglia calcification, idiopathic, 8, autosomal recessive

Basal ganglia calcification, idiopathic, 9, autosomal recessive

Branched-chain ketoacid dehydrogenase kinase deficiency

Carpal tunnel syndrome 1

Carpal tunnel syndrome 2

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss

Cerebellar ataxia, brain abnormalities, and cardiac conduction defects

Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1

Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2

Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3

Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4

Cerebral creatine deficiency syndrome 2

Cerebral creatine deficiency syndrome 3

Cerebrotendinous xanthomatosis

Ceroid lipofuscinosis, neuronal, 2

Charcot-Marie-Tooth disease, axonal, type 2C (hereditary motor and sensory neuropathy type IIC)

Charcot-Marie-Tooth disease, axonal, type 2DD

Charcot-Marie-Tooth disease, axonal, type 2HH

Charcot-Marie-Tooth disease, axonal, type 2JJ

Charcot-Marie-Tooth disease, axonal, type 2O

Charcot-Marie-Tooth disease, axonal, type 2P

Charcot-Marie-Tooth disease, type 2A1

Charcot-Marie-Tooth disease, type 2B1

Charcot-Marie-Tooth disease, type 2Y

Charcot-Marie-Tooth disease, type 4K

Coenzyme Q10 deficiency, primary, 1

Coenzyme Q10 deficiency, primary, 2

Coenzyme Q10 deficiency, primary, 3

Coenzyme Q10 deficiency, primary, 4

Coenzyme Q10 deficiency, primary, 5

Coenzyme Q10 deficiency, primary, 6

Coenzyme Q10 deficiency, primary, 7

Coenzyme Q10 deficiency, primary, 8

Coenzyme Q10 deficiency, primary, 9

Cognitive impairment with or without cerebellar ataxia

Convulsions, familial infantile, with paroxysmal choreoathetosis

Cortical dysplasia, complex, with other brain malformations 10

Cortical dysplasia, complex, with other brain malformations 13

Developmental and epileptic encephalopathy 1

Developmental and epileptic encephalopathy 101

Developmental and epileptic encephalopathy 107

Developmental and epileptic encephalopathy 109

Developmental and epileptic encephalopathy 11

Developmental and epileptic encephalopathy 13

Developmental and epileptic encephalopathy 14

Developmental and epileptic encephalopathy 15

Developmental and epileptic encephalopathy 16

Developmental and epileptic encephalopathy 2

Developmental and epileptic encephalopathy 23

Developmental and epileptic encephalopathy 27

Developmental and epileptic encephalopathy 28

Developmental and epileptic encephalopathy 33

Developmental and epileptic encephalopathy 36

Developmental and epileptic encephalopathy 52

Developmental and epileptic encephalopathy 53

Developmental and epileptic encephalopathy 55

Developmental and epileptic encephalopathy 58

Developmental and epileptic encephalopathy 64

Developmental and epileptic encephalopathy 6A (Dravet syndrome)

Developmental and epileptic encephalopathy 7

Developmental and epileptic encephalopathy 70

Developmental and epileptic encephalopathy 71

Developmental and epileptic encephalopathy 76

Developmental and epileptic encephalopathy 8

Developmental and epileptic encephalopathy 90

Developmental and epileptic encephalopathy 91

Developmental and epileptic encephalopathy 93

Developmental and epileptic encephalopathy 94

Developmental and epileptic encephalopathy 98

Developmental and epileptic encephalopathy 99

Duchenne muscular dystrophy

Dystonia 12

Dystonia 28, childhood-onset

Dystonia 9

Dystonia, DOPA-responsive

Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency

Dystonia, juvenile-onset

Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Encephalopathy, neonatal severe

Encephalopathy, progressive, with or without lipodystrophy

Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features

Epilepsy, early-onset, 1, vitamin B6-dependent

Epilepsy, early-onset, 2, with or without developmental delay

Epilepsy, early-onset, 3, with or without developmental delay

Epilepsy, early-onset, 4, vitamin B6-dependent

Epilepsy, early-onset, 5, with or without developmental delay

Epilepsy, generalized, with febrile seizures plus, type 1

Epilepsy, generalized, with febrile seizures plus, type 2

Epilepsy, nocturnal frontal lobe, 1

Epilepsy, nocturnal frontal lobe, 3

Epilepsy, nocturnal frontal lobe, 4

Epilepsy, nocturnal frontal lobe, 5

Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp

Episodic ataxia, type 9

Episodic kinesigenic dyskinesia 1

Essential tremor, hereditary, 4

Essential tremor, hereditary, 5

Essential tremor, hereditary, 6

Ethylmalonic encephalopathy

Farber lipogranulomatosis

GABA-transaminase deficiency

GAPO syndrome

Glut1 deficiency syndrome 1, infantile onset, severe

Glut1 deficiency syndrome 2

Hemangioma, capillary infantile

Hydrocephalus, congenital, 1

Hydrocephalus, congenital, 2, with or without brain or eye anomalies

Hydrocephalus, congenital, 3, with brain anomalies

Hydrocephalus, congenital, 4

Hydrocephalus, congenital, 5, susceptibility to

Hydrocephalus, congenital, X-linked

Hyperekplexia 1

Hyperekplexia 2

Hyperekplexia 3

Hyperekplexia 4

Hyperkalemic periodic paralysis

Hyperprolinemia, type I

Hyperprolinemia, type II

Inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1

Insensitivity to pain, congenital, with anhidrosis

Kanzaki disease

Leukodystrophy and cerebellar atrophy

Leukodystrophy, hypomyelinating, 27

Leukoencephalopathy with ataxia

Leukoencephalopathy, progressive, with ovarian failure

MEDNIK syndrome

Menkes disease

Microcephaly 17, primary, autosomal recessive

Microcephaly 5, primary, autosomal recessive

Migraine, familial hemiplegic, 2, migraine, familial basilar, included

Migraine, familial hemiplegic, 3

Mitchell syndrome

Muscular dystrophy, congenital, with cataracts and intellectual disability

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3

Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4

Myoclonic epilepsy associated with ragged-red fibers

Myoclonic epilepsy, infantile, familial

Myopathy with extrapyramidal signs

Myopathy, epilepsy, and progressive cerebral atrophy

Neurodegeneration due to cerebral folate transport deficiency

Neurodegeneration with ataxia and late-onset optic atrophy

Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Neurodegeneration with brain iron accumulation 10 (Aceruloplasminemia)

Neurodegeneration with brain iron accumulation 2A

Neuronal intranuclear inclusion disease

Neuronopathy, distal hereditary motor, autosomal dominant 8

Neuropathy, ataxia, and retinitis pigmentosa

Neuropathy, distal hereditary motor, type VC

Neuropathy, hereditary sensory and autonomic, type III

Occipital horn syndrome

Oculopharyngodistal myopathy 1

Oculopharyngodistal myopathy 2

Oculopharyngodistal myopathy 3

Oculopharyngodistal myopathy 4

Paramyotonia congenita

Parkinson disease 15, autosomal recessive, early-onset

Parkinson disease 19a, autosomal recessive, juvenile-onset

Parkinson disease 2, autosomal recessive, juvenile-onset

Parkinson disease 20, autosomal recessive, early-onset

Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development

Parkinson disease 6, autosomal recessive, early onset

Parkinson disease 7, autosomal recessive, early-onset

Parkinson disease 9, autosomal recessive, juvenile-onset

Parkinsonism with spasticity, X-linked

Parkinsonism-dystonia 1, infantile-onset

Parkinsonism-dystonia 2, infantile-onset

Parkinsonism-dystonia 3, childhood-onset

Periventricular heterotopia with microcephaly, autosomal recessive

Pitt-Hopkins like syndrome 1

Pitt-Hopkins syndrome

Pontocerebellar hypoplasia, type 14

Pontocerebellar hypoplasia, type 17

Pontocerebellar hypoplasia, type 9

Porphyria cutanea tarda

Porphyria variegata

Porphyria, acute hepatic

Pyridoxamine 5′-phosphate oxidase deficiency

Retinopathy-sensory neuropathy syndrome

Scapuloperoneal spinal muscular atrophy

Scapuloperoneal syndrome, neurogenic, Kaeser type

Schizophrenia 15

Sea-blue histiocyte disease

Segawa syndrome, autosomal recessive

Seizures, benign familial infantile, 2

Seizures, benign familial infantile, 3

Seizures, benign familial infantile, 5

Seizures, benign familial neonatal, 1

Seizures, benign familial neonatal, 2

Silver spastic paraplegia syndrome

Sjogren-Larsson syndrome

Spastic ataxia 1, autosomal dominant

Spastic ataxia 10, autosomal recessive

Spastic ataxia 11, autosomal dominant

Spastic ataxia 2, autosomal recessive

Spastic ataxia 3, autosomal recessive

Spastic ataxia 5, autosomal recessive

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

Spastic ataxia, Charlevoix-Saguenay type

Spastic paraplegia 1, X-linked (MASA syndrome)

Spastic paraplegia 18A, autosomal dominant

Spastic paraplegia 18B, autosomal recessive

Spastic paraplegia 47, autosomal recessive

Spastic paraplegia 50, autosomal recessive

Spastic paraplegia 51, autosomal recessive

Spastic paraplegia 52, autosomal recessive

Spastic paraplegia 5A, autosomal recessive

Spastic paraplegia 78, autosomal recessive

Spastic paraplegia 8, autosomal dominant

Spastic paraplegia 81, autosomal recessive

Spasticity, childhood-onset, with hyperglycinemia

Spinal muscular atrophy with progressive myoclonic epilepsy

Spinal muscular atrophy, distal, X-linked 3

Spinal muscular atrophy, lower extremity-predominant 1, AD

Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant

Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant

Spinocerebellar ataxia 19

Spinocerebellar ataxia 28

Spinocerebellar ataxia 34

Spinocerebellar ataxia 40

Spinocerebellar ataxia 51

Spinocerebellar ataxia, X-linked 1

Spinocerebellar ataxia, autosomal recessive 12

Spinocerebellar ataxia, autosomal recessive 7

Stomatin-deficient cryohydrocytosis with neurologic defects

Stuttering, familial persistent, 1

Conditions List:

Metabolic

2-methylbutyryl-CoA dehydrogenase deficiency

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

3-hydroxyacyl-CoA dehydrogenase II deficiency

3-hydroxyacyl-CoA dehydrogenase deficiency

3-methylcrotonyl-CoA carboxylase 1 deficiency

3-methylcrotonyl-CoA carboxylase 2 deficiency

3-methylglutaconic aciduria, type I

3-methylglutaconic aciduria, type II (Barth syndrome)

3-methylglutaconic aciduria, type III

3-methylglutaconic aciduria, type IX

3-methylglutaconic aciduria, type V

3-methylglutaconic aciduria, type VI, with deafness, encephalopathy, and Leigh-like syndrome

3-methylglutaconic aciduria, type VIIA, autosomal dominant

3-methylglutaconic aciduria, type VIIB, autosomal recessive

3-methylglutaconic aciduria, type VIII

AICA-ribosiduria due to ATIC deficiency

Abdominal obesity-metabolic syndrome 3

Abetalipoproteinemia

Achalasia-progeroid syndrome

Acyl-CoA dehydrogenase, medium-chain, deficiency of

Acyl-CoA dehydrogenase, short-chain, deficiency of

Adenine phosphoribosyltransferase deficiency

Alkaptonuria

Alpha-mannosidosis

Alpha-methylacetoacetic aciduria

Aminoacylase 1 deficiency

Argininemia

Argininosuccinic aciduria

Aromatic L-amino acid decarboxylase deficiency

Beta-mannosidosis

Biotinidase deficiency

Canavan disease

Carbamoylphosphate synthetase I deficiency

Carnitine acylcarnitine translocase deficiency

Carnitine deficiency, systemic primary

Carnitine palmitoyltransferase I deficiency

Carnitine palmitoyltransferase II deficiency, infantile

Carnitine palmitoyltransferase II deficiency, lethal neonatal

Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced

Cholesteryl ester storage disease

Citrullinemia, type I

Citrullinemia, type II, adult-onset

Citrullinemia, type II, neonatal-onset

Combined malonic and methylmalonic aciduria

Congenital disorder of glycosylation, type IIc

Congenital disorder of glycosylation, type IId

Congenital disorder of glycosylation, type IIk

Congenital disorder of glycosylation, type IIm

Congenital disorder of glycosylation, type IIn

Congenital disorder of glycosylation, type IIr

Congenital disorder of glycosylation, type IIt

Congenital disorder of glycosylation, type Ia

Congenital disorder of glycosylation, type Iaa

Congenital disorder of glycosylation, type Ib

Congenital disorder of glycosylation, type Ic

Congenital disorder of glycosylation, type Icc

Congenital disorder of glycosylation, type Id

Congenital disorder of glycosylation, type Ih

Congenital disorder of glycosylation, type Ii

Congenital disorder of glycosylation, type Ij

Congenital disorder of glycosylation, type Ik

Congenital disorder of glycosylation, type Il

Congenital disorder of glycosylation, type Ip

Congenital disorder of glycosylation, type It

Cystathioninuria

Cystinosis, late-onset juvenile or adolescent nephropathic

Cystinosis, nephropathic

Cystinosis, ocular nonnephropathic

Cystinuria

Danon disease

Dihydrolipoamide dehydrogenase deficiency

Endothelial lipase deficiency

Fabry disease

Fructose intolerance, hereditary

Fructose-1,6-bisphosphatase deficiency

Fucosidosis

GM1-gangliosidosis, type I

GM1-gangliosidosis, type II

GM1-gangliosidosis, type III

Galactokinase deficiency

Galactose epimerase deficiency

Galactosemia

Galactosemia IV

Galactosialidosis

Gillessen-Kaesbach-Nishimura syndrome

Glutaric acidemia I

Glutathione synthetase deficiency

Glycine N-methyltransferase deficiency

Glycine encephalopathy 2

Glycogen storage disease 0, liver

Glycogen storage disease IA

Glycogen storage disease IB

Glycogen storage disease IC

Glycogen storage disease II

Glycogen storage disease III

Glycogen storage disease IXb

Glycogen storage disease IXc

Glycogen storage disease VI

Glycogen storage disease XII

Glycogen storage disease, IXa1

HMG-CoA synthase-2 deficiency

Hawkinsinuria

Hemochromatosis, type 1

Hepatic lipase deficiency

Holocarboxylase synthetase deficiency

Homocystinuria due to cystathionine beta-synthase deficiency

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Homocystinuria-megaloblastic anemia, cblD type

Homocystinuria-megaloblastic anemia, cblE type

Homocystinuria-megaloblastic anemia, cblG type

Hurler syndrome

Hurler-Scheie syndrome

Hyperalphalipoproteinemia

Hyperammonemia due to carbonic anhydrase va deficiency

Hypercholesterolemia, familial, 1

Hypercholesterolemia, familial, 2

Hypercholesterolemia, familial, 3

Hypercholesterolemia, familial, 4

Hyperlipidemia, familial combined, 3

Hyperlipoproteinemia, type I

Hyperlipoproteinemia, type ID

Hyperlipoproteinemia, type III

Hyperlipoproteinemia, type V

Hyperlysinemia, type I

Hypermethioninemia due to adenosine kinase deficiency

Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hyperphenylalaninemia, BH4-deficient, A

Hyperphenylalaninemia, BH4-deficient, B

Hyperphenylalaninemia, BH4-deficient, C

Hyperphenylalaninemia, BH4-deficient, D

Hyperphenylalaninemia, mild, non-BH4-deficient

Hypertriglyceridemia 2

Hypertriglyceridemia, susceptibility to

Hypertriglyceridemia, transient infantile

Hypoalphalipoproteinemia, primary, 1

Hypoalphalipoproteinemia, primary, 2

Hypobetalipoproteinemia, familial, 1

Hypobetalipoproteinemia, familial, 2

Hypoglycemia of infancy, leucine-sensitive

Hypomagnesemia 1, intestinal

Hypophosphatasia, adult, odontohypophosphatasia included

Hypophosphatasia, childhood

Hypophosphatasia, infantile

Isobutyryl-CoA dehydrogenase deficiency

Isovaleric acidemia

Krabbe disease

LDL-C level changes

Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency

Lipodystrophy, congenital generalized, type 1

Lipodystrophy, congenital generalized, type 2

Lipodystrophy, congenital generalized, type 3

Lipodystrophy, congenital generalized, type 4

Lipodystrophy, congenital generalized, type 5

Lipodystrophy, familial partial, type 2

Lipodystrophy, familial partial, type 3

Lipodystrophy, familial partial, type 4

Lipodystrophy, familial partial, type 6

Lipodystrophy, familial partial, type 7

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Lysinuric protein intolerance

Malonyl-CoA decarboxylase deficiency

Maple syrup urine disease, mild variant

Maple syrup urine disease, type II

Maple syrup urine disease, type Ia

Maple syrup urine disease, type Ib

Metachromatic leukodystrophy

Methionine adenosyltransferase i/III deficiency

Methylmalonic aciduria and homocystinuria, cblC type

Methylmalonic aciduria and homocystinuria, cblD type

Methylmalonic aciduria and homocystinuria, cblF type

Methylmalonic aciduria and homocystinuria, cblJ type

Methylmalonic aciduria and homocystinuria, cblX type

Methylmalonic aciduria, cblA type, vitamin B12-responsive

Methylmalonic aciduria, cblB type, vitamin B12-responsive

Methylmalonic aciduria, cblD type

Methylmalonic aciduria, mut(0) type, mut(-) type included

Methylmalonic aciduria, transient, due to transcobalamin receptor defect

Methylmalonyl-CoA epimerase deficiency

Mevalonic aciduria

Mitochondrial DNA depletion syndrome 2 (myopathic type)

Mitochondrial complex I deficiency, nuclear type 20

Mitochondrial complex II deficiency, nuclear type 1

Mitochondrial complex II deficiency, nuclear type 2

Mitochondrial complex II deficiency, nuclear type 3

Mitochondrial complex II deficiency, nuclear type 4

Mitochondrial complex III deficiency, nuclear type 1

Mitochondrial complex IV deficiency, nuclear type 1

Mitochondrial complex IV deficiency, nuclear type 5, (french-canadian)

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Mitochondrial trifunctional protein deficiency 1

Mitochondrial trifunctional protein deficiency 2

Molybdenum cofactor deficiency, complementation group A

Monocarboxylate transporter 1 deficiency

Mucolipidosis II alpha/beta

Mucolipidosis III alpha/beta

Mucolipidosis III gamma

Mucopolysaccharidosis, type II

Mucopolysaccharidosis, type IIIA

Mucopolysaccharidosis, type IIIB

Mucopolysaccharidosis, type IIIC

Mucopolysaccharidosis, type IIID

Mucopolysaccharidosis, type IVA

Mucopolysaccharidosis, type IVB (Morquio)

Mucopolysaccharidosis, type VI

Mucopolysaccharidosis, type VII

Multiple acyl-CoA-dehydrogenase deficiency

N-acetylglutamate synthase deficiency

Niemann-Pick disease, type A

Niemann-Pick disease, type B

Niemann-Pick disease, type C1

Niemann-Pick disease, type C2

Obesity

Obesity (BMIQ20)

Obesity, severe, susceptibility to, BMIQ9

Obesity, susceptibility to, BMIQ19

Ornithine transcarbamylase deficiency, hyperammonemia due to

Orotic aciduria

Peroxisomal acyl-CoA oxidase deficiency

Peters-plus syndrome

Phenylketonuria

Phosphoenolpyruvate carboxykinase deficiency, cytosolic

Phosphoglycerate dehydrogenase deficiency

Propionic acidemia

Pyruvate carboxylase deficiency

Pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E1-beta deficiency

Pyruvate dehydrogenase E2 deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

Pyruvate dehydrogenase phosphatase deficiency

Scheie syndrome

Schindler disease

Sialidosis

Sitosterolemia 1

Sitosterolemia 2

Succinic semialdehyde dehydrogenase deficiency

Succinyl CoA:3-oxoacid CoA transferase deficiency

Tay-Sachs disease

Thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type)

Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type)

Thiamine metabolism dysfunction syndrome 3 (Amish-type microcephaly)

Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)

Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)

Transcobalamin II deficiency

Tyrosine transaminase deficiency

Tyrosinemia, type I

Tyrosinemia, type III

Very long chain acyl-CoA dehydrogenase deficiency

Wilson disease

Wolman disease

Conditions List:

Cardiovascular

Amyloidosis, hereditary systemic 1, transthyretin-related

Amyloidosis, hereditary systemic 2

Amyloidosis, hereditary systemic 3

Amyloidosis, hereditary systemic 4, Finnish type

Amyloidosis, hereditary systemic 5

Amyloidosis, hereditary systemic 6

Aortic aneurysm, familial thoracic 4

Aortic aneurysm, familial thoracic 6

Aortic valve disease 1

Aortic valve disease 2

Aortic valve disease 3

Apolipoprotein A-II deficiency

Apolipoprotein C-II deficiency

Apolipoprotein C-III deficiency

Arrhythmogenic right ventricular dysplasia 1

Arrhythmogenic right ventricular dysplasia 10

Arrhythmogenic right ventricular dysplasia 11

Arrhythmogenic right ventricular dysplasia 13

Arrhythmogenic right ventricular dysplasia 14

Arrhythmogenic right ventricular dysplasia 5

Arrhythmogenic right ventricular dysplasia 8

Arrhythmogenic right ventricular dysplasia 9

Arterial calcification, generalized, of infancy, 1

Arterial calcification, generalized, of infancy, 2

Atrial fibrillation, familial, 10

Atrial fibrillation, familial, 11

Atrial fibrillation, familial, 13

Atrial fibrillation, familial, 14

Atrial fibrillation, familial, 3

Atrial fibrillation, familial, 4

Atrial fibrillation, familial, 6

Atrial fibrillation, familial, 7

Atrial fibrillation, familial, 9

Atrial septal defect 2

Atrial septal defect 3

Atrial septal defect 4

Atrial septal defect 5

Atrial septal defect 6

Atrial septal defect 7, with or without AV conduction defects

Atrial septal defect 8

Atrial septal defect 9

Atrial standstill 1

Atrial standstill 2

Atrioventricular septal defect 4

Atrioventricular septal defect 5

Atrioventricular septal defect, partial, with heterotaxy syndrome

Brugada syndrome 1

Brugada syndrome 2

Brugada syndrome 3

Brugada syndrome 4

Brugada syndrome 5

Brugada syndrome 7

Brugada syndrome 8

Brugada syndrome 9

Cardiofaciocutaneous syndrome 1

Cardiofaciocutaneous syndrome 2

Cardiofaciocutaneous syndrome 3

Cardiofaciocutaneous syndrome 4

Cardiomyopathy, dilated, 1A

Cardiomyopathy, dilated, 1AA, with or without LVNC

Cardiomyopathy, dilated, 1BB

Cardiomyopathy, dilated, 1C, with or without LVNC

Cardiomyopathy, dilated, 1CC

Cardiomyopathy, dilated, 1D

Cardiomyopathy, dilated, 1DD

Cardiomyopathy, dilated, 1E

Cardiomyopathy, dilated, 1EE

Cardiomyopathy, dilated, 1FF

Cardiomyopathy, dilated, 1G

Cardiomyopathy, dilated, 1GG

Cardiomyopathy, dilated, 1HH

Cardiomyopathy, dilated, 1I

Cardiomyopathy, dilated, 1II

Cardiomyopathy, dilated, 1JJ

Cardiomyopathy, dilated, 1KK

Cardiomyopathy, dilated, 1L

Cardiomyopathy, dilated, 1LL

Cardiomyopathy, dilated, 1MM

Cardiomyopathy, dilated, 1NN

Cardiomyopathy, dilated, 1O

Cardiomyopathy, dilated, 1P

Cardiomyopathy, dilated, 1R

Cardiomyopathy, dilated, 1S, left ventricular noncompaction 5 included

Cardiomyopathy, dilated, 1V

Cardiomyopathy, dilated, 1W

Cardiomyopathy, dilated, 1X

Cardiomyopathy, dilated, 1Y

Cardiomyopathy, dilated, 1Z

Cardiomyopathy, dilated, 2C

Cardiomyopathy, dilated, 2D

Cardiomyopathy, dilated, 2E

Cardiomyopathy, dilated, 2F

Cardiomyopathy, dilated, 2G

Cardiomyopathy, dilated, 2I

Cardiomyopathy, dilated, 2J

Cardiomyopathy, dilated, 2K

Cardiomyopathy, dilated, 2L

Cardiomyopathy, dilated, 2M

Cardiomyopathy, dilated, 3B

Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (Malouf syndrome)

Cardiomyopathy, dilated, with woolly hair and keratoderma

Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis

Cardiomyopathy, familial hypertrophic, 1

Cardiomyopathy, familial hypertrophic, 10

Cardiomyopathy, familial hypertrophic, 11

Cardiomyopathy, familial hypertrophic, 12

Cardiomyopathy, familial hypertrophic, 13

Cardiomyopathy, familial hypertrophic, 14

Cardiomyopathy, familial hypertrophic, 15

Cardiomyopathy, familial hypertrophic, 16

Cardiomyopathy, familial hypertrophic, 17

Cardiomyopathy, familial hypertrophic, 18

Cardiomyopathy, familial hypertrophic, 2

Cardiomyopathy, familial hypertrophic, 20

Cardiomyopathy, familial hypertrophic, 25

Cardiomyopathy, familial hypertrophic, 26

Cardiomyopathy, familial hypertrophic, 27

Cardiomyopathy, familial hypertrophic, 28

Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies

Cardiomyopathy, familial hypertrophic, 3

Cardiomyopathy, familial hypertrophic, 31

Cardiomyopathy, familial hypertrophic, 4

Cardiomyopathy, familial hypertrophic, 6

Cardiomyopathy, familial hypertrophic, 7

Cardiomyopathy, familial hypertrophic, 8

Cardiomyopathy, familial hypertrophic, 9

Cardiomyopathy, familial restrictive, 1

Cardiomyopathy, familial restrictive, 3

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy

Chromosome 16p11.2 deletion syndrome, obesity susceptibility included

Chylomicron retention disease

Combined lipase deficiency

Combined oxidative phosphorylation deficiency 22

Combined oxidative phosphorylation deficiency 8

Congenital heart defects, multiple types, 8, with or without heterotaxy

Conotruncal heart malformations

Coronary artery disease, autosomal dominant, 1

Coronary artery disease, autosomal dominant, 2

Diaphragmatic hernia 3

Diaphragmatic hernia 4, with cardiovascular defects

Glycogen storage disease of heart, lethal congenital

Heart-hand syndrome, Slovenian type

Heterotaxy, visceral, 1, X-linked

Heterotaxy, visceral, 4, autosomal

Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy

Hypertension, essential

Hypoplastic left heart syndrome 2

Left ventricular noncompaction 1, with or without congenital heart defects

Left ventricular noncompaction 7

Liddle syndrome 1

Liddle syndrome 2

Liddle syndrome 3

Loeys-Dietz syndrome 1

Loeys-Dietz syndrome 2

Loeys-Dietz syndrome 3

Loeys-Dietz syndrome 4

Loeys-Dietz syndrome 5

Loeys-Dietz syndrome 6

Long QT syndrome 1

Long QT syndrome 10

Long QT syndrome 12

Long QT syndrome 13

Long QT syndrome 14

Long QT syndrome 15

Long QT syndrome 16

Long QT syndrome 2

Long QT syndrome 3

Long QT syndrome 4

Long QT syndrome 5

Long QT syndrome 6

Long QT syndrome 7

Long QT syndrome 8

Long QT syndrome 9

Moyamoya disease 2, susceptibility to

Moyamoya disease 5

Moyamoya disease 6, with or without achalasia

Moyamoya disease 7

Naxos disease

Noonan syndrome 1

Noonan syndrome 10

Noonan syndrome 11

Noonan syndrome 12

Noonan syndrome 13

Noonan syndrome 14

Noonan syndrome 2

Noonan syndrome 3

Noonan syndrome 4

Noonan syndrome 5

Noonan syndrome 6

Noonan syndrome 7

Noonan syndrome 8

Noonan syndrome 9

Noonan syndrome-like disorder with loose anagen hair 1

Noonan syndrome-like disorder with loose anagen hair 2

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

Norum disease

Plasma triglyceride level QTL, low

Progressive familial heart block, type IA, nonprogressive heart block included

Progressive familial heart block, type IB

Pulmonary hypertension, primary, 1

Pulmonary hypertension, primary, 2

Pulmonary hypertension, primary, 3

Pulmonary hypertension, primary, 4

Pulmonary hypertension, primary, 5

Pulmonary hypertension, primary, 6

Pulmonary venoocclusive disease 1

Pulmonary venoocclusive disease 2

Short QT syndrome 1

Short QT syndrome 2

Short QT syndrome 3

Sick sinus syndrome 1

Sick sinus syndrome 2

Sinoatrial node dysfunction and deafness

Supravalvular aortic stenosis

Tangier disease

Telangiectasia, hereditary hemorrhagic, type 1

Telangiectasia, hereditary hemorrhagic, type 2

Tetralogy of Fallot

Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Ventricular fibrillation, familial, 1

Ventricular septal defect 1

Ventricular septal defect 2

Ventricular septal defect 3

Ventricular tachycardia, catecholaminergic polymorphic, 1

Ventricular tachycardia, catecholaminergic polymorphic, 2

Ventricular tachycardia, catecholaminergic polymorphic, 3

Ventricular tachycardia, catecholaminergic polymorphic, 4

Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness

Wolff-Parkinson-White syndrome

Conditions List:

Malformations

Achondrogenesis, type II or hypochondrogenesis

Achondroplasia

Acrocapitofemoral dysplasia

Acrofacial dysostosis, Cincinnati type

Acromesomelic dysplasia 1, Maroteaux type

Acromesomelic dysplasia 2A

Acromesomelic dysplasia 2B

Acromesomelic dysplasia 2C, Hunter-Thompson type

Acromesomelic dysplasia 3

Acromesomelic dysplasia 4

Acromicric dysplasia

Adams-Oliver syndrome 1

Adams-Oliver syndrome 2

Adams-Oliver syndrome 3

Adams-Oliver syndrome 4

Adams-Oliver syndrome 5

Adams-Oliver syndrome 6

Amelogenesis imperfecta, hypomaturation type, IIA3

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Apert syndrome

Arthrogryposis multiplex congenita 7, X-linked

Avascular necrosis of the femoral head, primary, 1

Avascular necrosis of the femoral head, primary, 2

Beare-Stevenson cutis gyrata syndrome

Bent bone dysplasia syndrome

Bohring-Opitz syndrome

Brachydactyly, type A1, C

Brachydactyly, type A1, D

Brachydactyly, type A2

Brachydactyly, type B1

Brachydactyly, type B2

Brachydactyly, type C

Brachydactyly, type D

Brachydactyly, type E1

Brachydactyly, type E2

Brachydactyly, type A1

Brachyolmia type 3

Brachyolmia type 4, with mild epiphyseal and metaphyseal changes

Caffey disease

Camurati-Engelmann disease

Caudal regression syndrome

Cerebrooculofacioskeletal syndrome 3

Chondrocalcinosis 2

Chondrodysplasia punctata 1, X-linked recessive

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2

Craniometaphyseal dysplasia, autosomal dominant

Craniometaphyseal dysplasia, autosomal recessive

Craniosynostosis 1

Crisponi/cold-induced sweating syndrome 1

Crouzon syndrome

Crouzon syndrome with acanthosis nigricans

Cutis laxa, autosomal recessive, type IID

Cutis laxa, autosomal recessive, type IIE

Dental anomalies and short stature

Digital arthropathy-brachydactyly, familial

Donohue syndrome

EVEN-plus syndrome

Ehlers-Danlos syndrome, arthrochalasia type, 1

Ehlers-Danlos syndrome, arthrochalasia type, 2

Ehlers-Danlos syndrome, cardiac valvular type

Ehlers-Danlos syndrome, spondylodysplastic type, 1

Ehlers-Danlos syndrome, vascular type

Emberger syndrome

Endosteal hyperostosis

Epiphyseal chondrodysplasia, Miura type

Epiphyseal dysplasia, multiple, 1

Fetal akinesia deformation sequence 3

Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies

Fibrochondrogenesis 1

Fibrodysplasia ossificans progressiva

Geleophysic dysplasia 1

Geleophysic dysplasia 2

Geleophysic dysplasia 3

Gracile syndrome

Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies

Growth retardation, developmental delay, facial dysmorphism

Hajdu-Cheney syndrome

Hardikar syndrome

Hartsfield syndrome

Holoprosencephaly 7

Hypertrichosis, congenital generalized, with gingival hyperplasia

Hypertrichotic osteochondrodysplasia

Hypochondroplasia

Insulin-like growth factor I deficiency

Jackson-Weiss syndrome

Klippel-Feil syndrome 1, autosomal dominant

Klippel-Feil syndrome 2

Klippel-Feil syndrome 3, autosomal dominant

Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism

Kniest dysplasia

Kosaki overgrowth syndrome

LADD syndrome 1

LADD syndrome 2

LADD syndrome 3

Laron syndrome

Lateral meningocele syndrome

Legg-Calve-Perthes disease

Mandibuloacral dysplasia

Mandibuloacral dysplasia with type B lipodystrophy

Marshall syndrome

Meckel syndrome 1

Meckel syndrome 7

Meckel syndrome 9

Metatropic dysplasia

Muenke syndrome

Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects

Multiple pterygium syndrome, lethal type

Multiple pterygium syndrome, nonlethal type

Multiple synostoses syndrome 1

Multiple synostoses syndrome 2

Multiple synostoses syndrome 3

Multiple synostoses syndrome 4

Neu-Laxova syndrome 1

Neural tube defects

Neural tube defects, folate-sensitive, susceptibility to

Neurofibromatosis, familial spinal

Neurofibromatosis, type I

Neurofibromatosis, type II

Neurofibromatosis-Noonan syndrome

Oculodentodigital dysplasia

Oculodentodigital dysplasia, autosomal recessive

Ohdo syndrome, X-linked

Orofacial cleft 11

Osteoarthritis with mild chondrodysplasia

Osteogenesis imperfecta, type I

Osteogenesis imperfecta, type II

Osteogenesis imperfecta, type III

Osteogenesis imperfecta, type IV

Osteogenesis imperfecta, type XIII

Osteoglophonic dysplasia

Osteolysis, familial expansile

Osteopathia striata with cranial sclerosis

Osteopetrosis, autosomal dominant 1

Osteopetrosis, autosomal recessive 1

Osteopetrosis, autosomal recessive 3

Osteopetrosis, autosomal recessive 7

Osteopetrosis, autosomal recessive 8

Osteoporosis-pseudoglioma syndrome

Paget disease of bone 3

Parastremmatic dwarfism

Pfeiffer syndrome

Pierpont syndrome

Platyspondylic skeletal dysplasia, torrance type

Polymicrogyria with or without vascular-type eds

Pseudoachondroplasia

Rabson-Mendenhall syndrome

Robinow syndrome, autosomal dominant 1

Robinow syndrome, autosomal dominant 2

Robinow syndrome, autosomal dominant 3

Robinow syndrome, autosomal recessive 1

Robinow syndrome, autosomal recessive 2

Robinow-Sorauf syndrome

SADDAN dysplasia (severe achondroplasia with developmental delay and acanthosis nigricans)

SHORT syndrome

Sacral agenesis with vertebral anomalies

Saethre-Chotzen syndrome

Seckel syndrome 1

Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

Short stature with nonspecific skeletal abnormalities

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies

Silver-Russell syndrome 3

Simpson-Golabi-Behmel syndrome, type 1

Smith-Lemli-Opitz syndrome

Spondylocostal dysostosis 1

Spondylocostal dysostosis 2

Spondylocostal dysostosis 3

Spondylocostal dysostosis 4

Spondylocostal dysostosis 5

Spondylocostal dysostosis 6

Spondyloepimetaphyseal dysplasia, Strudwick type

Spondyloepimetaphyseal dysplasia, aggrecan type

Spondyloepiphyseal dysplasia with precocious osteoarthritis (Czech dysplasia)

Spondyloepiphyseal dysplasia, Maroteaux type

Spondyloepiphyseal dysplasia, Omani type, with congenital joint dislocations

Spondyloepiphyseal dysplasia, Stanescu type

Spondyloepiphyseal dysplasia, congenital type

Spondylometaphyseal dysplasia with cone-rod dystrophy

Spondylometaphyseal dysplasia, Algerian type

Spondylometaphyseal dysplasia, Kozlowski type

Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type

Spondylometaphyseal dysplasia, Pagnamenta type

Spondylometaphyseal dysplasia, Sedaghatian type

Spondylometaphyseal dysplasia, axial

Spondylometaphyseal dysplasia, corner fracture type

Spondyloperipheral dysplasia

Stapes ankylosis with broad thumbs and toes

Sweeney-Cox syndrome

Symphalangism, proximal, 1A

Symphalangism, proximal, 1B

Syndactyly, type III

Syndactyly, type V

Synpolydactyly 1

Synpolydactyly 2

Tarsal-carpal coalition syndrome

Taurodontism, microdontia, and dens invaginatus

Thanatophoric dysplasia, type I

Thanatophoric dysplasia, type II

Tooth agenesis, selective, 7

Trigonocephaly 1

VACTERL association, X-linked

Ventriculomegaly and arthrogryposis

Watson syndrome

Weill-Marchesani syndrome 1, recessive

Weill-Marchesani syndrome 2, dominant

Weill-Marchesani syndrome 3, recessive

Weill-Marchesani syndrome 4, recessive

Conditions List:

Immunology

Agammaglobulinemia 3, autosomal recessive

Agammaglobulinemia 4, autosomal recessive

Agammaglobulinemia 6, autosomal recessive

Agammaglobulinemia 7, autosomal recessive

Agammaglobulinemia 8A, autosomal dominant

Agammaglobulinemia 8B, autosomal recessive

Agammaglobulinemia, X-linked

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity

Autoimmune disease, multisystem, infantile-onset, 2

Autoinflammation with arthritis and vasculitis

Autoinflammation with infantile enterocolitis

B-cell expansion with NFKB and T-cell anergy

Chronic granulomatous disease 3, autosomal recessive

Chronic granulomatous disease 5, autosomal recessive

Chronic granulomatous disease, X-linked

Combined cellular and humoral immune defects with granulomas

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

Complement component 4, partial deficiency of

Familial Mediterranean fever, autosomal dominant

Familial Mediterranean fever, autosomal recessive

Familial cold autoinflammatory syndrome 4

Granulomatous disease, chronic, autosomal recessive, 2

Granulomatous disease, chronic, autosomal recessive, 4

Hemophagocytic lymphohistiocytosis, familial, 2

Hemophagocytic lymphohistiocytosis, familial, 3

Hemophagocytic lymphohistiocytosis, familial, 4

Hemophagocytic lymphohistiocytosis, familial, 5

Hepatic venoocclusive disease with immunodeficiency

Hyper-IgD syndrome

Hyper-IgE syndrome 2, autosomal recessive, with recurrent Infections

Immunodeficiency 104, severe combined

Immunodeficiency 105, severe combined

Immunodeficiency 110, with lymphoproliferation

Immunodeficiency 114, folate-responsive

Immunodeficiency 11A

Immunodeficiency 11B, with atopic dermatitis

Immunodeficiency 124, severe combined

Immunodeficiency 15A

Immunodeficiency 15B

Immunodeficiency 18, severe combined variant included

Immunodeficiency 19, severe combined

Immunodeficiency 21

Immunodeficiency 26, with or without neurologic abnormalities

Immunodeficiency 34

Immunodeficiency 36

Immunodeficiency 4, severe combined, X-linked

Immunodeficiency 40

Immunodeficiency 41, with lymphoproliferation and autoimmunity

Immunodeficiency 43

Immunodeficiency 44

Immunodeficiency 48

Immunodeficiency 49, severe combined

Immunodeficiency 6, moderate combined, X-linked

Immunodeficiency 67

Immunodeficiency 68

Immunodeficiency 75

Immunodeficiency 8

Immunodeficiency due to defect in MAPBP-interacting protein

Immunodeficiency due to purine nucleoside phosphorylase deficiency

Immunodeficiency with hyper-IgM, type 1, X-linked

Immunodeficiency with hyper-IgM, type 2

Immunodeficiency with hyper-IgM, type 3

Immunodeficiency with hyper-IgM, type 5

Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia

Immunodeficiency, common variable, 1

Immunodeficiency, common variable, 10

Immunodeficiency, common variable, 11

Immunodeficiency, common variable, 12

Immunodeficiency, common variable, 13

Immunodeficiency, common variable, 14

Immunodeficiency, common variable, 15

Immunodeficiency, common variable, 2

Immunodeficiency, common variable, 3

Immunodeficiency, common variable, 4

Immunodeficiency, common variable, 5

Immunodeficiency, common variable, 6

Immunodeficiency, common variable, 7

Immunodeficiency, common variable, 8, with autoimmunity

Immunodeficiency, severe combined, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

Immunodeficiency, severe combined, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative

Immunodeficiency, severe combined, due to ADA deficiency

Immunodeficiency, severe combined, with hypereosinophilia (Omenn syndrome)

Immunodeficiency, severe combined, with leukopenia (reticular dysgenesis)

Immunodeficiency, severe combined, with sensitivity to ionizing radiation, Athabascan type included

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked

Immunoglobulin A deficiency 2

Isolated growth hormone deficiency, type III, with agammaglobulinemia

LIG4 syndrome

Leukocyte adhesion deficiency, type I

Leukocyte adhesion deficiency, type III

Lymphoproliferative syndrome 1

Lymphoproliferative syndrome 2

Lymphoproliferative syndrome 3

Lymphoproliferative syndrome, X-linked, 1

Lymphoproliferative syndrome, X-linked, 2

MHC class II deficiency 1

MHC class II deficiency 2

MHC class II deficiency 3

MHC class II deficiency 4

Malignant hyperthermia susceptibility 1

Malignant hyperthermia susceptibility 5

Periodic fever, immunodeficiency, and thrombocytopenia syndrome

Pseudo-TORCH syndrome 1

Pseudo-TORCH syndrome 2

Pseudo-TORCH syndrome 3

RAS-associated autoimmune leukoproliferative disorder

Spondyloenchondrodysplasia with immune dysregulation

T-cell immunodeficiency, congenital alopecia, and nail dystrophy

T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant

Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome

Wiskott-Aldrich syndrome 1

Wiskott-Aldrich syndrome 2

Conditions List:

Hematology

Afibrinogenemia, congenital, hypofibrinogenemia, congenital, included

Alpha-thalassemia

Alpha-thalassemia, hemoglobin H type

Amegakaryocytic thrombocytopenia, congenital

Anemia, aplastic

Anemia, congenital, nonspherocytic hemolytic, 6, glutatione synthetase deficient

Anemia, sideroblastic, 1

Anemia, sideroblastic, 2, pyridoxine-refractory

Anemia, sideroblastic, 3, pyridoxine-refractory

Anemia, sideroblastic, 4

Anemia, sideroblastic, 5

Angioedema, hereditary, 1

Beta-thalassemia

Beta-thalassemia, dominant inclusion body type

Bleeding disorder, platelet-type, 16, autosomal dominant

Bleeding disorder, platelet-type, 24, autosomal dominant

Bloom syndrome

Bone marrow failure syndrome 3

Bone marrow failure syndrome 4

Bone marrow failure syndrome 5

Chediak-Higashi syndrome

Creatine phosphokinase, elevated serum

Cryohydrocytosis

Dysfibrinogenemia, congenital, hypodysfibrinogenemia, congenital, included

Elliptocytosis 3

Erythrocyte lactate transporter defect

Erythrocytosis, familial, 2

Erythrocytosis, familial, 6

Erythrocytosis, familial, 7

Factor VII deficiency

Factor X deficiency

Factor XIIIA deficiency

Factor XIIIB deficiency

Fanconi anemia, complementation group A

Fanconi anemia, complementation group B

Fanconi anemia, complementation group C

Fanconi anemia, complementation group D1

Fanconi anemia, complementation group D2

Fanconi anemia, complementation group E

Fanconi anemia, complementation group F

Fanconi anemia, complementation group G

Fanconi anemia, complementation group I

Fanconi anemia, complementation group J

Fanconi anemia, complementation group L

Fanconi anemia, complementation group N

Fanconi anemia, complementation group O

Fanconi anemia, complementation group P

Fanconi anemia, complementation group Q

Fanconi anemia, complementation group S

Fanconi anemia, complementation group T

Fanconi anemia, complementation group V

Fanconi anemia, complementation group W

Folate malabsorption, hereditary

Glanzmann thrombasthenia 1

Glanzmann thrombasthenia 2

Heinz body anemia

Hemolytic anemia, G6PD deficient (favism)

Hemophilia A

Hemophilia B

Hereditary persistence of fetal hemoglobin

Hyperbilirubinemia, familial transient neonatal

Hyperbilirubinemia, rotor type, digenic

Intrinsic factor deficiency

MIRAGE syndrome

Megaloblastic anemia, due to dihydrofolate reductase deficiency

Megaloblastic anemia, folate-responsive

Methemoglobinemia, alpha type

Methemoglobinemia, beta type

Neutropenia, cyclic

Neutropenia, severe congenital 1, autosomal dominant

Neutropenia, severe congenital 2, autosomal dominant

Neutropenia, severe congenital 3, autosomal recessive

Neutropenia, severe congenital 4, autosomal recessive

Neutropenia, severe congenital 5, autosomal recessive

Neutropenia, severe congenital 6, autosomal recessive

Neutropenia, severe congenital 7, autosomal recessive

Neutropenia, severe congenital 8, autosomal dominant

Neutropenia, severe congenital 9, autosomal dominant

Neutropenia, severe congenital, X-linked

Nijmegen breakage syndrome

Ovalocytosis, SA type

Protoporphyria, erythropoietic, 1

Protoporphyria, erythropoietic, 2

Protoporphyria, erythropoietic, X-linked

Pseudohyperkalemia, familial, 2, due to red cell leak

Pyruvate kinase deficiency of red cells

Radioulnar synostosis with amegakaryocytic thrombocytopenia 1

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

Scott syndrome

Shwachman-Diamond syndrome 1

Shwachman-Diamond syndrome 2

Sickle cell anemia

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

Spherocytosis, type 1

Spherocytosis, type 2

Spherocytosis, type 4

Spherocytosis, type 5

Thrombocythemia 2

Thrombocytopenia 8, with dysmorphic features and developmental delay

Thrombocytopenia, X-linked

Thrombophilia due to thrombin defect

Thrombophilia, X-linked, due to factor IX defect

Thrombotic thrombocytopenic purpura, hereditary

Vitamin K-dependent clotting factors, combined deficiency of, 1

Vitamin K-dependent clotting factors, combined deficiency of, 2

von Willebrand disease, type 1

von Willebrand disease, type 3

von Willebrand disease, types 2A, 2B, 2M, and 2N

Conditions List:

Muscular

Becker muscular dystrophy

Hypokalemic periodic paralysis, type 1

Hypokalemic periodic paralysis, type 2

King-Denborough syndrome

Muscular dystrophy, congenital

Muscular dystrophy, limb-girdle, autosomal recessive 10

Muscular dystrophy, limb-girdle, autosomal recessive 13

Muscular dystrophy, limb-girdle, autosomal recessive 28

Muscular dystrophy, limb-girdle, autosomal recessive 6

Muscular dystrophy, limb-girdle, autosomal recessive 7

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2

Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3

Myasthenic syndrome, congenital, 10

Myasthenic syndrome, congenital, 12, with tubular aggregates

Myasthenic syndrome, congenital, 13, with tubular aggregates

Myasthenic syndrome, congenital, 14

Myasthenic syndrome, congenital, 15

Myasthenic syndrome, congenital, 16

Myasthenic syndrome, congenital, 1A, slow-channel

Myasthenic syndrome, congenital, 1B, fast-channel

Myasthenic syndrome, congenital, 25

Myasthenic syndrome, congenital, 3B, fast-channel

Myasthenic syndrome, congenital, 6, presynaptic

Myopathy due to myoadenylate deaminase deficiency

Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1

Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2

Myopathy, centronuclear, 1

Myopathy, centronuclear, 2

Myopathy, centronuclear, 4

Myopathy, centronuclear, 5

Myopathy, centronuclear, 6, with fiber-type disproportion

Myopathy, centronuclear, X-linked

Myopathy, congenital, 10A, severe variant

Myopathy, congenital, 10B, mild variant

Myopathy, congenital, 11

Myopathy, congenital, 12

Myopathy, congenital, 13

Myopathy, congenital, 14

Myopathy, congenital, 15

Myopathy, congenital, 16

Myopathy, congenital, 17

Myopathy, congenital, 18, due to dihydropyridine receptor defect

Myopathy, congenital, 19

Myopathy, congenital, 1A, autosomal dominant, with susceptibility to malignant hyperthermia

Myopathy, congenital, 1B, autosomal recessive

Myopathy, congenital, 20

Myopathy, congenital, 21, with early respiratory failure

Myopathy, congenital, 22A, classic

Myopathy, congenital, 22B, severe fetal

Myopathy, congenital, 23

Myopathy, congenital, 24

Myopathy, congenital, 25

Myopathy, congenital, 26

Myopathy, congenital, 2A, typical, autosomal dominant

Myopathy, congenital, 2B, severe infantile, autosomal recessive

Myopathy, congenital, 2C, severe infantile, autosomal dominant

Myopathy, congenital, 3, with rigid spine

Myopathy, congenital, 4A, autosomal dominant

Myopathy, congenital, 4B, autosomal recessive

Myopathy, congenital, 5, with cardiomyopathy

Myopathy, congenital, 6, with ophthalmoplegia

Myopathy, congenital, 7A, myosin storage, autosomal dominant

Myopathy, congenital, 7B, myosin storage, autosomal recessive

Myopathy, congenital, 8

Myopathy, congenital, 9A, with respiratory insufficiency and bone fractures

Myopathy, congenital, 9B, proximal, with minicore lesions

Myopathy, distal, 1 (Laing distal myopathy)

Myopathy, distal, 3

Myopathy, distal, 4

Myopathy, distal, 5

Myopathy, distal, 6, adult onset

Myopathy, distal, 7, adult-onset, X-linked

Myopathy, distal, Swedish (Welander distal myopathy)

Myopathy, distal, Tateyama type

Myopathy, distal, with anterior tibial onset

Myopathy, distal, with or without rimmed vacuoles (Nonoka myopathy)

Myopathy, myofibrillar, 1

Myopathy, myofibrillar, 10

Myopathy, myofibrillar, 11

Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy

Myopathy, myofibrillar, 13, with rimmed vacuoles

Myopathy, myofibrillar, 2A, adult-onset

Myopathy, myofibrillar, 2B, infantile-onset

Myopathy, myofibrillar, 3

Myopathy, myofibrillar, 4

Myopathy, myofibrillar, 5

Myopathy, myofibrillar, 6

Myopathy, myofibrillar, 7

Myopathy, myofibrillar, 8

Myopathy, myofibrillar, 9, with early respiratory failure

Myopathy, nemaline, 10

Myopathy, nemaline, 2, autosomal recessive

Myopathy, nemaline, 5A, autosomal recessive, severe infantile

Myopathy, nemaline, 5B, autosomal recessive, childhood-onset

Myopathy, nemaline, 5C, autosomal dominant

Myopathy, nemaline, 6, autosomal dominant

Myopathy, nemaline, 7, autosomal recessive

Myopathy, nemaline, 8, autosomal recessive

Myopathy, nemaline, 9

Myopathy, scapulohumeroperoneal

Myopathy, visceral, 1

Myopathy, visceral, 2

Myotonia congenita, atypical, acetazolamide-responsive

Rippling muscle disease 2

Tibial muscular dystrophy, tardive

Conditions List:

Endocrinology

ACTH deficiency, isolated

Achalasia-addisonianism-alacrima syndrome

Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency

Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency

Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency

Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism

Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete

Aldosteronism, glucocorticoid-remediable

Diabetes mellitus, insulin-resistant, with acanthosis nigricans

Diabetes mellitus, permanent neonatal 1

Diabetes mellitus, permanent neonatal 2, with or without neurologic features

Diabetes mellitus, permanent neonatal 3, with or without neurologic features

Diabetes mellitus, permanent neonatal 4

Diabetes mellitus, transient neonatal 2

Diabetes mellitus, transient neonatal 3

Diabetes mellitus, type 1 (insulin-dependent), 2

Diabetes mellitus, type 1 (insulin-dependent), 20

Diabetes mellitus, type 2 (noninsulin-dependent)

Disordered steroidogenesis due to cytochrome P450 oxidoreductase

Frasier syndrome

Glucocorticoid deficiency 1

Growth hormone insensitivity, partial, increased responsiveness to growth hormone included

Hyperaldosteronism, familial, type II

Hyperaldosteronism, familial, type III

Hyperaldosteronism, familial, type IV

Hyperinsulinemic hypoglycemia, familial, 1

Hyperinsulinemic hypoglycemia, familial, 2

Hyperinsulinemic hypoglycemia, familial, 3

Hyperinsulinemic hypoglycemia, familial, 4

Hyperinsulinemic hypoglycemia, familial, 5

Hyperinsulinemic hypoglycemia, familial, 6

Hyperinsulinemic hypoglycemia, familial, 7

Hyperinsulinemic hypoglycemia, familial, 8

Hypermanganesemia with dystonia 1

Hypermanganesemia with dystonia 2

Hyperparathyroidism, neonatal severe

Hyperproinsulinemia

Hyperthyroidism, familial gestational

Hyperthyroidism, nonautoimmune

Hypoaldosteronism, congenital, due to CMO I deficiency

Hypoaldosteronism, congenital, due to CMO II deficiency

Hypocalcemia, autosomal dominant 1

Hypocalciuric hypercalcemia, familial, type III

Hypocalciuric hypercalcemia, type I

Hypogonadotropic hypogonadism 14 with or without anosmia

Hypogonadotropic hypogonadism 2 with or without anosmia

Hypogonadotropic hypogonadism 26 with or without anosmia

Hypogonadotropic hypogonadism 5 with or without anosmia

Hypoinsulinemic hypoglycemia with hemihypertrophy

Hypothyroidism, central, and testicular enlargement

Hypothyroidism, congenital, nongoitrous, 1

Hypothyroidism, congenital, nongoitrous, 2

Hypothyroidism, congenital, nongoitrous, 4

Hypothyroidism, congenital, nongoitrous, 5

Hypothyroidism, congenital, nongoitrous, 6

Hypothyroidism, congenital, nongoitrous, 7

Hypothyroidism, congenital, nongoitrous, 8

Hypothyroidism, congenital, nongoitrous, 9

Lipoid congenital adrenal hyperplasia

Maturity-onset diabetes of the young, type 1

Maturity-onset diabetes of the young, type 10

Maturity-onset diabetes of the young, type 11

Maturity-onset diabetes of the young, type 12

Maturity-onset diabetes of the young, type 13

Maturity-onset diabetes of the young, type 2

Maturity-onset diabetes of the young, type 3

Maturity-onset diabetes of the young, type 4

Maturity-onset diabetes of the young, type 5

Maturity-onset diabetes of the young, type 6

Maturity-onset diabetes of the young, type 7

Maturity-onset diabetes of the young, type 8

Maturity-onset diabetes of the young, type 9

Obesity and endocrinopathy due to impaired processing of prohormones

Obesity, adrenal insufficiency, and red hair due to POMC deficiency

Obesity, morbid, due to leptin deficiency

Obesity, morbid, due to leptin receptor deficiency

Pancreatic agenesis 2

Pancreatic agenesis 3

Pancreatic agenesis and congenital heart defects

Pancreatic agenesis, congenital

Pancreatic and cerebellar agenesis

Panhypopituitarism, X-linked

Pituitary hormone deficiency, combined or isolated, 7

Pituitary hormone deficiency, combined or isolated, 8

Pituitary hormone deficiency, combined, 1

Pituitary hormone deficiency, combined, 2

Pituitary hormone deficiency, combined, 3

Pituitary hormone deficiency, combined, 4

Pituitary hormone deficiency, combined, 5

Pituitary hormone deficiency, combined, 6

Premature ovarian failure 7

Primary aldosteronism, seizures, and neurologic abnormalities

Thyroid dyshormonogenesis 6

Thyroid hormone metabolism, abnormal

Thyroid hormonogenesis, genetic defect in, 1

Thyroid hormonogenesis, genetic defect in, 2A

Thyroid hormonogenesis, genetic defect in, 3

Thyroid hormonogenesis, genetic defect in, 4

Thyroid hormonogenesis, genetic defect in, 5

Conditions List:

Ear, Nose, & Throat

Aplasia of lacrimal and salivary glands

Auditory neuropathy, autosomal dominant 3

Baraitser-Winter syndrome 1

Bart-Pumphrey syndrome

Bjornstad syndrome

Brown-Vialetto-Van Laere syndrome 1

Brown-Vialetto-Van Laere syndrome 2

Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome

Chanarin-Dorfman syndrome

Deafness, autosomal dominant 12

Deafness, autosomal dominant 20

Deafness, autosomal dominant 2B, with or without peripheral neuropathy

Deafness, autosomal dominant 36

Deafness, autosomal dominant 3A

Deafness, autosomal dominant 3B

Deafness, autosomal dominant 6/14/38

Deafness, autosomal dominant 65

Deafness, autosomal dominant 73

Deafness, autosomal dominant 8/12

Deafness, autosomal dominant 82

Deafness, autosomal recessive 12

Deafness, autosomal recessive 15

Deafness, autosomal recessive 18A

Deafness, autosomal recessive 18B

Deafness, autosomal recessive 1A

Deafness, autosomal recessive 1B

Deafness, autosomal recessive 2

Deafness, autosomal recessive 21

Deafness, autosomal recessive 23

Deafness, autosomal recessive 24

Deafness, autosomal recessive 25

Deafness, autosomal recessive 28

Deafness, autosomal recessive 29

Deafness, autosomal recessive 3

Deafness, autosomal recessive 31

Deafness, autosomal recessive 36, with or without vestibular involvement

Deafness, autosomal recessive 4, with enlarged vestibular aqueduct

Deafness, autosomal recessive 42

Deafness, autosomal recessive 48

Deafness, autosomal recessive 49

Deafness, autosomal recessive 57

Deafness, autosomal recessive 59

Deafness, autosomal recessive 6

Deafness, autosomal recessive 63

Deafness, autosomal recessive 67

Deafness, autosomal recessive 7

Deafness, autosomal recessive 74

Deafness, autosomal recessive 77

Deafness, autosomal recessive 79

Deafness, autosomal recessive 8/10

Deafness, autosomal recessive 84

Deafness, autosomal recessive 84B

Deafness, autosomal recessive 86

Deafness, autosomal recessive 9

Ectopia lentis, familial

Hystrix-like ichthyosis with deafness

Jervell and Lange-Nielsen syndrome 1

Jervell and Lange-Nielsen syndrome 2

Keratitis-ichthyosis-deafness syndrome

Keratoderma, palmoplantar, with deafness

Otitis media, susceptibility to

Pendred syndrome

Stickler syndrome, type I

Stickler syndrome, type I, nonsyndromic ocular

Stickler syndrome, type II

Usher syndrome, type IB

Usher syndrome, type IC

Usher syndrome, type ID

Usher syndrome, type IF

Usher syndrome, type IG

Usher syndrome, type IIA

Usher syndrome, type IIC

Usher syndrome, type IID

Usher syndrome, type IJ

Vohwinkel syndrome

Wolfram syndrome 1

Wolfram-like syndrome, autosomal dominant

Conditions List:

Ophthalmology

Achromatopsia 2

Achromatopsia 3

Alstrom syndrome

Bardet-Biedl syndrome 1

Bardet-Biedl syndrome 10

Bardet-Biedl syndrome 13

Bardet-Biedl syndrome 3

Behr syndrome

Cataract 16, multiple types

Cataract 44

Cone-rod dystrophy 12

Cone-rod dystrophy 3

Cone-rod dystrophy 6

Cone-rod dystrophy, X-linked, 1

Corneal dystrophy, Fuchs endothelial, 3

Dyschromatosis universalis hereditaria 1

Dyschromatosis universalis hereditaria 3

Exudative vitreoretinopathy 4

Exudative vitreoretinopathy 7

Exudative vitreoretinopathy 8

Fish-eye disease

Glaucoma 3, primary congenital, D

Gyrate atrophy of choroid and retina with or without ornithinemia

Infantile cerebellar-retinal degeneration

Leber congenital amaurosis 1

Leber congenital amaurosis 13

Leber congenital amaurosis 17

Leber congenital amaurosis 2

Leber congenital amaurosis 5

Leber congenital amaurosis 9

Leber optic atrophy

Macular degeneration, X-linked atrophic

Macular dystrophy, retinal, 2

Microphthalmia, isolated 4

Microphthalmia, isolated 7

Microphthalmia, syndromic 1

Microphthalmia, syndromic 2

Microphthalmia, syndromic 5

Microphthalmia, syndromic 6

Microphthalmia/coloboma 13

Microphthalmia/coloboma 6

Microphthalmia/coloboma 7

Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma

Night blindness, congenital stationary, type 1I

Nystagmus 6, congenital, X-linked

Optic atrophy 1

Optic atrophy 10, with or without ataxia, impaired intellectual development and seizures

Optic atrophy 12

Optic atrophy 3, with cataract

Optic atrophy 9

Optic atrophy plus syndrome

Retinal dystrophy with macular staphyloma

Retinitis pigmentosa 19

Retinitis pigmentosa 20

Retinitis pigmentosa 3

Retinitis pigmentosa 39

Retinitis pigmentosa 41

Retinitis pigmentosa 55

Retinitis pigmentosa 73

Retinitis pigmentosa 76

Retinitis pigmentosa 87, with choroidal involvement

Retinitis pigmentosa and erythrocytic microcytosis

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness

Retinoschisis 1, X-linked, juvenile

Stargardt disease 1

Stargardt disease 3

Stargardt disease 4

Stargardt disease 5

Conditions List:

Urology

Alport syndrome 1, X-linked

Alport syndrome 2, autosomal recessive

Alport syndrome 3A, autosomal dominant

Alport syndrome 3A, autosomal recessive

Apparent mineralocorticoid excess

Bartter syndrome, type 1, antenatal

Bartter syndrome, type 2

Bartter syndrome, type 3

Bartter syndrome, type 4A, neonatal, with sensorineural deafness

Bartter syndrome, type 4B, digenic

Bartter syndrome, type 5, antenatal, transient

Bronchiectasis with or without elevated sweat chloride 1

Bronchiectasis with or without elevated sweat chloride 2

Bronchiectasis with or without elevated sweat chloride 3

Congenital bilateral absence of vas deferens

Denys-Drash syndrome

Diabetes insipidus, nephrogenic 1, X-linked

Diabetes insipidus, nephrogenic 2, autosomal

Distal renal tubular acidosis 1

Fanconi renotubular syndrome 1

Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young

Glomerulopathy with fibronectin deposits 2

Hematuria, benign familial, 1

Hematuria, benign familial, 2

Hyperuricemia, HRPT-related

Hypomagnesemia 6, renal

Hypophosphatemic rickets with hypercalciuria, hereditary

Hypophosphatemic rickets, X-linked dominant

Hypophosphatemic rickets, autosomal recessive, 2

Lipoprotein glomerulopathy

Meacham syndrome

Nephrogenic syndrome of inappropriate antidiuresis

Nephronophthisis 3

Nephronophthisis-like nephropathy 1

Nephrotic syndrome, type 14

Nephrotic syndrome, type 4

Nephrotic syndrome, type 8

Nephrotic syndrome, type 9

Polycystic kidney disease 2

Polycystic kidney disease 3

Polycystic kidney disease 4, with or without polycystic liver disease

Polycystic kidney disease 8

Primary hyperoxaluria, type 1

Primary hyperoxaluria, type 2

Primary hyperoxaluria, type 3

Proximal renal tubular acidosis-ocular anomaly syndrome

Pseudohypoaldosteronism, type IA, autosomal dominant

Pseudohypoaldosteronism, type IB1, autosomal recessive

Pseudohypoaldosteronism, type IB2, autosomal recessive

Pseudohypoaldosteronism, type IB3, autosomal recessive

Pseudohypoaldosteronism, type IIE

Renal tubular acidosis, distal, with hemolytic anemia

Renal tubular dysgenesis

Renal-hepatic-pancreatic dysplasia 1

Renal-hepatic-pancreatic dysplasia 2

Rickets, vitamin D-dependent, type 1A

Rickets, vitamin D-dependent, type 1B

Rickets, vitamin D-dependent, type 2A

Tubulointerstitial kidney disease, autosomal dominant, 1

Tubulointerstitial kidney disease, autosomal dominant, 2

Tubulointerstitial kidney disease, autosomal dominant, 4

Tubulointerstitial kidney disease, autosomal dominant, 5

Tubulointerstitial kidney disease, autosomal dominant, 6

Conditions List:

Oncology

Adenomas, multiple colorectal

Adenomatous polyposis coli

Basal cell nevus syndrome 1

Basal cell nevus syndrome 2

Breast cancer, male, susceptibility to

Breast-ovarian cancer, familial, susceptibility to, 1

Breast-ovarian cancer, familial, susceptibility to, 2

Colorectal cancer, hereditary nonpolyposis, type 6

Cutaneous telangiectasia and cancer syndrome, familial

Desmoid disease, hereditary

Gastric adenocarcinoma and proximal polyposis of the stomach

Gastrointestinal stromal tumor

Glioblastoma 3, susceptibility to

Juvenile polyposis syndrome

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Leukemia, acute lymphoblastic

Leukemia, acute myeloid

Leukemia, juvenile myelomonocytic

Li-Fraumeni syndrome

Lymphoma, non-Hodgkin

Lynch syndrome 1

Lynch syndrome 2

Lynch syndrome 4

Lynch syndrome 5

Medulloblastoma, susceptibility to

Melanoma, cutaneous malignant, 9, susceptibility to

Meningioma

Mismatch repair cancer syndrome 1

Mismatch repair cancer syndrome 2

Mismatch repair cancer syndrome 3

Mismatch repair cancer syndrome 4

Monosomy 7 myelodysplasia and leukemia syndrome 1

Monosomy 7 myelodysplasia and leukemia syndrome 2

Muir-Torre syndrome

Multiple endocrine neoplasia, type I

Multiple endocrine neoplasia, type IIA

Multiple endocrine neoplasia, type IIB

Myelodysplastic syndrome, susceptibility to

Neuroblastoma with Hirschsprung disease

Neuroblastoma, susceptibility to, 1

Paraganglioma and gastric stromal sarcoma

Peutz-Jeghers syndrome

Pheochromocytoma

Pheochromocytoma/paraganglioma syndrome 1

Pheochromocytoma/paraganglioma syndrome 2

Pheochromocytoma/paraganglioma syndrome 3

Pheochromocytoma/paraganglioma syndrome 4

Pheochromocytoma/paraganglioma syndrome 5

Pheochromocytoma/paraganglioma syndrome 6

Pheochromocytoma/paraganglioma syndrome 7

Polyposis syndrome, hereditary mixed, 2

Prostate cancer, susceptibility to

Renal cell carcinoma

Retinoblastoma

Rhabdoid tumor predisposition syndrome 1

Rhabdoid tumor predisposition syndrome 2

Thyroid carcinoma, familial medullary

Tumoral calcinosis, familial, normophosphatemic

Wilms tumor 1

von Hippel-Lindau syndrome

Conditions List:

Dermatology

Acrodermatitis enteropathica, zinc-deficiency type

Albinism, ocular, type I

Albinism, oculocutaneous, type IV

Clouston syndrome

Cole disease

Cutis laxa, autosomal dominant

Cutis laxa, autosomal recessive, type IIA

Dyskeratosis congenita, X-linked

Dyskeratosis congenita, autosomal dominant 1

Dyskeratosis congenita, autosomal dominant 2, dyskeratosis congenita, autosomal recessive 4 included

Dyskeratosis congenita, autosomal dominant 3

Dyskeratosis congenita, autosomal dominant 5

Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy

Epidermolysis bullosa, lethal acantholytic

Erythrokeratodermia variabilis et progressiva 1

Erythrokeratodermia variabilis et progressiva 3

Erythrokeratodermia variabilis et progressiva 6

Fibromatosis, gingival, 1

Hutchinson-Gilford progeria syndrome

Hypotrichosis 14

Ichthyosis, congenital, autosomal recessive 2

Ichthyosis, congenital, autosomal recessive 3

Ichthyosis, congenital, autosomal recessive 4A

Ichthyosis, congenital, autosomal recessive 4B

Ichthyosis, follicular, with atrichia and photophobia syndrome 2

Keratosis palmoplantaris striata II

Mastocytosis, cutaneous

Metachondromatosis

Mucoepithelial dysplasia, hereditary

Myofibromatosis, infantile, 1

Myofibromatosis, infantile, 2

Neutrophilic dermatosis, acute febrile

Palmoplantar keratoderma with congenital alopecia

Piebaldism

Porokeratosis 3, multiple types

Premature aging syndrome, Penttinen type

Restrictive dermopathy 1, lethal

Restrictive dermopathy 2, lethal

Stiff skin syndrome

Trichothiodystrophy 1, photosensitive

Trichothiodystrophy 2, photosensitive

Wrinkly skin syndrome

XFE progeroid syndrome

Xeroderma pigmentosum, complementation group A

Xeroderma pigmentosum, complementation group B

Xeroderma pigmentosum, complementation group C

Xeroderma pigmentosum, complementation group D

Xeroderma pigmentosum, complementation group E, DDB-negative subtype

Xeroderma pigmentosum, complementation group F, group F/Cockayne syndrome included

Xeroderma pigmentosum, complementation group G

Explore the Fore Genomics Health Screen

Condition list current as of the most recent panel update and subject to change as the science evolves. For educational purposes only; not medical advice. These tests were developed and their performance characteristics determined by Fore Genomics, Inc. The FDA has not approved or cleared these tests; FDA clearance is not currently required for clinical use. Results are not intended to be the sole basis for clinical diagnosis or patient-management decisions.

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Sign up for our newsletter and get our Free Parent Guide eBook

How It Works

What We Screen For

About Us

Guides & Articles

FAQs

Contact Info:

support@foregenomics.com855-360-FORE (3673)

support@foregenomics.com
855-360-FORE (3673)