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Definition

An autosomal dominant disorder characterized by intellectual disability, poor speech, motor delay, and autistic features. Most patients have additional non-specific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances.

Acronym

VSVS

Synonyms

IDDISBAS
Intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures
Mental retardation, autosomal dominant 24
MRD24

Keywords

Mental retardation

 
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