Term Name: | Barber-Say syndrome |
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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 ) |