Metadata | |
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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/ |
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Synonyms |
CSS12 [EXACT] |
Parent Relationships |