Loci

Oculopharyngodistal myopathy type 5

Intellectual developmental disorder, Fragile X intellectual disability

Intellectual disability associated with fragile site FRA2A

Spinal and bulbar muscular atrophy, Kennedy Disease

Early-infantile epileptic encephalopathy

Partington syndrome

Dentatorubral-Pallidoluysian Atrophy

Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 10

Spinocerebellar ataxia type 2

Spinocerebellar ataxia type 3/Machado-Joseph disease

Spinocerebellar ataxia type 7

Spinocerebellar ataxia type 8

Spinocerebellar ataxia type 31

Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS)

Spinocerebellar ataxia type 6

Jacobsen syndrome (FRAX11B fragile site)

Maturity-Onset Diabetes of the Young Type 8

Myotonic dystrophy type 2

Multiple epiphyseal dysplasia, Pseudoachondroplasia

Progressive Myoclonic Epilepsy and Developmental and Epileptic Encephalopathy

Progressive Myoclonic Epilepsy Type 1 (EPM1), a.k.a Unverricht-Lundborg Disease (ULD)

Spinocerebellar ataxia type 37

Intellectual developmental disorder, FRA12A type

Duchenne muscular dystrophy

Myotonic dystrophy type 1

Richieri-Costa-Pereira syndrome

Oculopharyngodistal myopathy

Spinocerebellar ataxia 27B

Fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency FXPOI/POF1

Blepharophimosis, epicanthus inversus, and ptosis

Friedreich ataxia

Oculopharyngodistal myopathy type 2

Glutaminase deficiency

Atypical frontotemporal lobar degeneration with ubiquitinated inclusions (aFTLD-U)

Hand-foot-genital syndrome 1

Hand-foot-genital syndrome 2

Hand-foot-genital syndrome 3

Syndactyly

Huntington disease

Huntington disease-like 2

Oculopharyngodistal myopathy type 1

Familial adult myoclonic epilepsy type 3

Nongoitrous congenital hypothyroidism-3

Autosomal dominant tubulointerstitial kidney disease

NAXE-related mitochondrial encephalopathy

Amyotrophic lateral sclerosis

Spinocerebellar ataxia type 36

Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3, hereditary essential tremor type 6

Oculopharyngeal myopathy with leukoencephalopathy 1

Oculopharyngeal muscular dystrophy

Congenital central hypoventilation syndrome

Myopathy with Rimmed Ubiquitin-Positive Autophagic Vacuolation, PLIN4-Related Myopathy

Progressive external ophthalmoplegia, Parkinson's disease

Spinocerebellar ataxia type 12

Hereditary sensory and autonomic neuropathy type VIII

Creutzfeldt-Jakob disease and Gerstmann-Straussler-Schneiker syndrome

Familial adult myoclonic epilepsy type 8

Familial adult myoclonic epilepsy type 7

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome

Oculopharyngodistal myopathy type 4

Cleidocranial dysplasia

Familial adult myoclonic epilepsy type 1

X-linked intellectual developmental disorder with isolated growth hormone deficiency; X-linked panhypopituitarism (PHPX)

Familial adult myoclonic epilepsy 2

X-linked dystonia-parkinsonism (XDP) a.k.a. Dystonia 3, torsion, X-linked (DYT3)

Oculopharyngodistal myopathy

Spinocerebellar ataxia type 17

Tetralogy of Fallot

Fuchs endothelial corneal dystrophy 3

Spinocerebellar ataxia 51

Familial adult myoclonic epilepsy type 6

Congenital Progressive Universal Melanosis

Neuronopathy, distal hereditary motor, autosomal recessive 7

Baratela-Scott Syndrome/Desbuquois dysplasia 2

Familial adult myoclonic epilepsy 4

Spinocerebellar ataxia 4

Holoprosencephaly-5

X-linked VACTERL syndrome

Autism spectrum disorder associated with fragile site FRA7A