cerebrooculofacioskeletal syndrome 4
Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.
MONDO:0008926
COFS syndrome
is_a
COFS syndrome caused by mutation in ERCC1
exact
COFS4
exact
ERCC1 COFS syndrome
exact
cerebrooculofacioskeletal syndrome 4
exact
cerebrooculofacioskeletal syndrome type 4
exact
SPBC4F6.15c