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ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

Disease Summary
Associated Targets ()

Mondo Description Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.
Mondo Term and Equivalent IDs
MONDO:0009445:  ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
GARD:0001993: 
MESH:C535727: 
Orphanet:2274: 
SCTID:403779009: 
UMLS:C1275088: