ANK3-related intellectual disability-sleep disturbance syndrome

Orpha code: 356996OMIM code: 615493

Definition

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
Classification

Disease

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

No additional description.

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