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Metadata
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

MIM:618027

Synonyms

CSS7 [EXACT]

Parent Relationships

is_a Coffin-Siris syndrome

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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