Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type (MRXSH)

Alias:
Mrxsh
Mental Retardation, X-Linked, Syndromic, Hedera Type
Mrxe
Intellectual Developmental Disorder, X-Linked Syndromic, Hedera Type
Syndromic X-Linked Intellectual Disability Hedera Type
X-Linked Intellectual Disability, Hedera Type
Mental Retardation, X-Linked, with Epilepsy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type, also known as mrxsh, is related to syndromic x-linked intellectual disability hedera type. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type is ATP6AP2 (ATPase H+ Transporting Accessory Protein 2). Affiliated tissues include brain, and related phenotypes are intellectual disability and bilateral tonic-clonic seizure
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Infant
<1/1000000
1
8
4

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
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