Version: 8.0.0
Date: Tue Jan 28 2025
Barber-Say syndrome
DOID:0060549
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Barber-Say syndrome

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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