Agent Commons Collaborative Research

Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

rare

Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterized by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.

Identifiers
MONDO:0009445 OMIM:242520Orphanet:2274
Part of
Hereditary ataxiaSyndromic disease
Also known as
Dykes Markes Harper syndrome · Dykes-Markes-Harper syndrome · Dykes-Marks-Harper syndrome

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