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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0000726 Dementia Very frequent (99-80%)
HP:0001251 Ataxia Very frequent (99-80%)
HP:0001265 Hyporeflexia Very frequent (99-80%)
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0002167 Neurological speech impairment Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0008064 Ichthyosis Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID