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 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder syndrome
has subtype: Coffin-Siris syndrome 1 Coffin-Siris syndrome 2 Coffin-Siris syndrome 3 Coffin-Siris syndrome 4 Coffin-Siris syndrome 5 Coffin-Siris syndrome 6 Coffin-Siris syndrome 7 Coffin-Siris syndrome 8 Coffin-Siris syndrome 9 Coffin-Siris syndrome 10 Coffin-Siris syndrome 11 Coffin-Siris syndrome 12