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Metadata
ID DOID:0112370
Name Coffin-Siris syndrome 12
Definition A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33.
https://pubmed.ncbi.nlm.nih.gov/33232675/
Xrefs

MIM:619325

Synonyms

CSS12 [EXACT]

Parent Relationships

is_a Coffin-Siris syndrome

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