X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome

Alias:
Mental Retardation, X-Linked, Syndromic 32
Mrxs32
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome, also known as mental retardation, x-linked, syndromic 32, is related to intellectual developmental disorder, x-linked, syndromic 32 and chromosome xq28 duplication syndrome, and has symptoms including seizures An important gene associated with X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome is CLIC2 (Chloride Intracellular Channel 2). Affiliated tissues include heart and testes, and related phenotypes are seizure and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
<1/1000000
7
107
2

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
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IF
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