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cerebro-oculo-facio-skeletal syndrome type 2 (COFS2)

COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur. 

OTHER NAME(S): COFS2 syndrome

ABREVIATION(S):
COFS2

TYPE: neurodegenerative disease, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS)

Related patway(s): nucleotide excision repair (NER), transcription factors

DNAtraffic protein(s) related to disease: ERCC2 (XPD)

OMIM: 610756

Last modification date: Oct. 6, 2011