Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

Orpha code: 2274OMIM code: 242520

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.

Disease data
Classification

Disease

Synonyms
Dykes-Marks-Harper syndrome
Zespół Dykesa, Markesa i Harpera
ORPHA code
2274
OMIM code
242520
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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