|Definition||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.
https://www.ncbi.nlm.nih.gov/pubmed/13520885, https://www.ncbi.nlm.nih.gov/pubmed/25073711, https://www.ncbi.nlm.nih.gov/pubmed/9529347
deafness, myopia, cataract, saddle nose-Marshall type [EXACT]
is_a ectodermal dysplasia