C183311Level 5
Intellectual Developmental Disorder, X-linked, Syndromic, Bain Type
**Semantic type:** Mental or Behavioral Dysfunction
**Definition:** An X-linked dominant condition caused by mutation(s) in the HNRNPH2 gene, encoding heterogeneous nuclear ribonucleoprotein H2. It is characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features in females.
**Synonyms:** - Bain Type of X-linked Syndromic Intellectual Disability - MRXSB
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