Term Name: cerebrooculofacioskeletal syndrome 4
Synonyms:
Definition: A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13.
Ontology: Human Disease [DOID:0080914]   ( DOID:0080914 )

Relationships
is a type of: cerebrooculofacioskeletal syndrome