ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Findings
No curated finding names ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009445), read 2026-09-29. CC BY 4.0.
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- DementiaHPOHP:0000726
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- HyporeflexiaHPOHP:0001265
- Very frequent (80% to 99% of cases)
- IchthyosisHPO
Where it sits
- A kind of
Other names
2 names
Resolves to: ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
- Also called
- Dykes-Markes-Harper syndromeDykes-Marks-Harper syndrome