DISEASES

Disease-gene associations mined from literature

Human genes for Meckel syndrome 4

Meckel syndrome 4 [DOID:0070118]

A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32.

Synonyms:  Meckel syndrome 4,  DOID:0070118,  MKS4,  Meckel-Gruber syndrome, type 4,  MeckelGruber syndrome type 4 ...