Term Name:	omodysplasia 1
Synonyms:
Definition:	An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32.
Ontology:	Human Disease [DOID:0080844]   ( DOID:0080844 )