Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome

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2021-01-23
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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.