Term Name: | Coffin-Siris syndrome 7 |
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Synonyms: | CSS7 |
Definition: | A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. |
Ontology: | Human Disease [DOID:0112369] ( DOID:0112369 ) |