Term Name: orofaciodigital syndrome XVI
Synonyms:
Definition: An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
Ontology: Human Disease [DOID:0080254]   ( DOID:0080254 )

Relationships
is a type of: autosomal recessive disease orofaciodigital syndrome