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Cohen syndrome; Pepper syndrome; cerebral obesity ocular skeletal syndrome
Epidemiology: rare
Genetics:
- autosomal recessive
- mutations in gene for Cohen syndrome protein-1 (VPS13B)
Clinical manifestations:
- obesity
- hypotonia
- intellectual deficit, mental retardation
- characteristic craniofacial dysmorphism
- high-arched or wave-shaped eyelids
- short philtrum
- thick hair
- low hairline
- abnormalities of the hands & feet
Related
vacuolar protein sorting-associated protein 13B; Cohen syndrome protein 1 (VPS13B, CHS1, COH1, KIAA0532)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 216550
References
OMIM :accession 216550