Term Name: Meckel syndrome 4
Synonyms: Meckel-Gruber syndrome, type 4, MKS4
Definition: A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32.
Ontology: Human Disease [DOID:0070118]   ( DOID:0070118 )

Relationships
is a type of: Meckel syndrome