ANK3-related intellectual disability-sleep disturbance syndrome

Orpha code: 356996OMIM code: 615493

Definicja

A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (<i>ANK3</i> gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.

Disease data
Klasyfikacja

Disease

Kod ORPHA
356996
Kod OMIM
615493
Kod ICD10
G93.8
Kod ICD11
-

No additional description.

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