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craniometaphyseal dysplasia, autosomal recessive

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Autosomal recessive form of craniometaphyseal dysplasia.
Uniprot Description An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy.
Mondo Term and Equivalent IDs
MONDO:0009035:  craniometaphyseal dysplasia, autosomal recessive
GARD:0001582: 
MESH:C536570: