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CAMOS syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0019374:  CAMOS syndrome
GARD:0009977: 
Orphanet:83472: 
SCTID:726031001: 
UMLS:C1847114: 
UMLS:C4511633: