Human genes for Meckel syndrome 5
Meckel syndrome 5 [DOID:0070119]
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of RPGRIP1L on chromosome 16q12.2.
Synonyms: Meckel syndrome 5, DOID:0070119, Meckel-Gruber syndrome, type 5, MKS5, MeckelGruber syndrome type 5 ...