Disease-gene associations mined from literature

Human genes for Barber-Say syndrome

Barber-Say syndrome [DOID:0060549]

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.

Synonyms:  Barber-Say syndrome,  BarberSay syndrome,  Barber-Say disease,  Barber-Say disorder,  Barber-Say syndromes ...