Term Name: orofaciodigital syndrome XVII
Synonyms:
Definition: An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28.
Ontology: Human Disease [DOID:0080289]   ( DOID:0080289 )

Relationships
is a type of: autosomal recessive disease orofaciodigital syndrome