" /> Snijders blok-campeau syndrome - CISMeF





Preferred Label : Snijders blok-campeau syndrome;

Symbol : SNIBCPS;

CISMeF acronym : IDDMSF; SNIBCPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies; IDDMSF;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chromodomain helicase DNA-binding protein 3 gene (CHD3, 602120.0001);

Prefixed ID : #618205;

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29/07/2025


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