You are using an outdated browser. Please upgrade your browser to improve your experience.

cerebrooculofacioskeletal syndrome 3

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
Mondo Term and Equivalent IDs
MONDO:0014696:  cerebrooculofacioskeletal syndrome 3
MESH:C565035: 
UMLS:C1851443: