Metadata | |
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ID | DOID:0112369 |
Name | Coffin-Siris syndrome 7 |
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. https://pubmed.ncbi.nlm.nih.gov/29429572/ |
Xrefs | |
Synonyms |
CSS7 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |