Term Name: Meckel syndrome 5
Synonyms: Meckel-Gruber syndrome, type 5, MKS5
Definition: A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2.
Ontology: Human Disease [DOID:0070119]   ( DOID:0070119 )

Relationships
is a type of: Meckel syndrome