Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type (MRXSN)

Alias:
Mental Retardation, X-Linked, Syndromic, Nascimento Type
Mrxs30
Mrxsn
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento-Type
Intellectual Developmental Disorder, X-Linked Syndromic, Nascimento Type
X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
Syndromic X-Linked Intellectual Disability Nascimento Type
Mental Retardation, X-Linked Syndromic, Nascimento-Type
X-Linked Intellectual Disability, Nascimento Type
Mental Retardation, X-Linked, Syndromic 30
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type, also known as mental retardation, x-linked, syndromic, nascimento type, is related to syndromic x-linked intellectual disability nascimento type, and has symptoms including seizures and dry skin. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type is UBE2A (Ubiquitin Conjugating Enzyme E2 A). Affiliated tissues include skin and pons, and related phenotypes are dry skin and wide mouth
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Infant
<1/1000000
1
4
6

Medical Symptom

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

Gene & Mutation

#
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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