| Term Name: | Coffin-Siris syndrome |
|---|---|
| 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 ) |