Term Name: Barber-Say syndrome
Synonyms:
Definition: A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37.
Ontology: Human Disease [DOID:0060549]   ( DOID:0060549 )

Relationships
is a type of: syndrome