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CAMOS syndrome
1 OMIM reference -
1 associated gene
1 connected disease
No signs/symptoms info
Disease Type of connection
Heritable pulmonary arterial hypertension
Synonym(s):
- Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities
- SCAR5
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ZNF592 Q92610613624
No signs/symptoms info available.