Cerebrooculofacioskeletal syndrome-4 (COFS4) is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013).
For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see 214150. [from OMIM]
- MedGen UID:
- 342798
- •Concept ID:
- C1853100
- •
- Disease or Syndrome