Term Name: Meckel syndrome 8
Synonyms: Meckel-Gruber syndrome, type 8, MKS8
Definition: A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31.
Ontology: Human Disease [DOID:0070122]   ( DOID:0070122 )

Relationships
is a type of: Meckel syndrome