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Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

Disease definition

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.

ORPHA:2274

  • Synonym(s):
    • Dykes-Markes-Harper syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 242520
  • UMLS: C1275088
  • MeSH: -
  • GARD: 1993
  • MedDRA: -

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