Term Name: | Coffin-Siris syndrome |
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Synonyms: | Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Short Stature-Onychodysplasia. |
Definition: | An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. |
Ontology: | Human Disease [DOID:1925] ( DOID:1925 ) |