Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration

Alias:
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dykes-Marks-Harper Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration, also known as ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome, is related to ichthyosis and cerebellar degeneration. Affiliated tissues include skin, and related phenotypes are ataxia and gait disturbance

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
XL
XLD
Newborn
<1/1000000
--
--
1

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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