Term Name: cerebrooculofacioskeletal syndrome 3
Synonyms:
Definition: A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33.
Ontology: Human Disease [DOID:0080913]   ( DOID:0080913 )

Relationships
is a type of: cerebrooculofacioskeletal syndrome