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Ichthyosis - hepatosplenomegaly - cerebellar degeneration

Orpha number ORPHA2274
Synonym(s) Dykes-Markes-Harper syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
X-linked recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C1275088
MeSH -
MedDRA -

Summary

This 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.


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Detailed information

Practical genetics
  • EN (2013,pdf)
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