Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy [Supplementary Concept]
A congenital syndrome characterized by slow or delayed growth, frontal bossing (unusually prominent forehead), MICROGNATHISM; failed tooth eruption, optic atrophy and severe hypotrichosis. It is caused by mutations in the anthrax toxin receptor 1 (ANTXR1) gene. OMIM: 230740
Date introduced: August 25, 2010
MeSH Unique ID: C535642
Heading Mapped to:
Entry Terms:
- Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
- Gapo Syndrome
- Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy
- Odontotrichomelic Syndrome