Human genes for Marshall syndrome
Marshall syndrome [DOID:0111510]
An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome.
Synonyms: Marshall syndrome, DOID:0111510, Marshall disease, Marshall disorder, Marshall syndromes ...