Human genes for Meckel syndrome 2
Meckel syndrome 2 [DOID:0070116]
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM216 on chromosome 11q12.2.
Synonyms: Meckel syndrome 2, DOID:0070116, Meckel-Gruber syndrome, type 2, MKS2, MeckelGruber syndrome type 2 ...