nonphotosensitive trichothiodystrophy 5 (DOID:0111868)
Alliance: disease page
Synonyms: TTD5
Alt IDs: OMIM:300953, MESH:D054463, NCI:C156433
Definition: A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24.