Human genes for orofaciodigital syndrome V
Orofaciodigital syndrome V [DOID:0060375]
An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32.
Synonyms: orofaciodigital syndrome V, DOID:0060375, orofaciodigital syndrome Vs, OFD5, orofaciodigital syndrome Thurston type ...