autosomal recessive disease COFS syndrome https://www.malacards.org/card/cerebrooculofacioskeletal_syndrome https://www.malacards.org/card/cerebrooculofacioskeletal_syndrome_1 Cerebro Oculo Facio Skeletal Syndrome Orphanet:1466 UMLS:C5399761 OMIMPS:214150 NORD:913 GARD:0006027 cerebrooculofacioskeletal syndrome DOID:0080910 Pena-Shokeir syndrome type 2 NCIT:C3817 Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. MONDO:0008926 COFS MEDGEN:1762238 cerebro-oculo-facio-skeletal syndrome Cockayne syndrome syndromic microphthalmia DNA repair disease