Human genes for otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal recessive [DOID:0080026]
An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
Synonyms: otospondylomegaepiphyseal dysplasia, autosomal recessive, autosomal recessive otospondylomegaepiphyseal dysplasia, DOID:0080026, otospondylomegaepiphyseal dysplasia autosomal recessive, autosomal recessive otospondylomegaepiphyseal dysplasias ...
Linkouts: OMIM