opitz-kaveggia syndrome Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An X-linked disease characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. (Human Disease Ontology, DOID_14711)
External Link http://www.omim.org/entry/305450
Similar Terms
Downloads & Tools


1 genes associated with the opitz-kaveggia syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
MED12 mediator complex subunit 12