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Definition

An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity.

Acronym

SNIBCPS

Synonyms

IDDMSF
Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies

Keywords

Mental retardation

 
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