Human genes for camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camptodactyly-tall stature-scoliosis-hearing loss syndrome [DOID:0111160]
A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.
Synonyms: camptodactyly-tall stature-scoliosis-hearing loss syndrome, camptodactylytall staturescoliosishearing loss syndrome, camptodactyly-tall stature-scoliosis-hearing loss disease, camptodactyly-tall stature-scoliosis-hearing loss disorder, camptodactyly-tall stature-scoliosis-hearing loss syndromes ...