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Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
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:2274Classification level: Disorder
A summary on this disease is available in Deutsch (2007) Français (2007) Italiano (2007) Nederlands (2007)
- Emergency guidelines
- Français (2018, pdf) - Orphanet Urgences
- Clinical practice guidelines
- Français (2021) - PNDS
: produced/endorsed by FSMR(s)
Further information on this disease
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