Syndromic X-Linked Intellectual Disability 34

Alias:
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Syndromic X-Linked Mental Retardation Mircsof-Langouet Type
Mental Retardation, X-Linked, Syndromic 34
Mrxs34
Mrxsml
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Syndromic X-Linked Intellectual Disability 34, also known as macrocephaly-intellectual disability-left ventricular non compaction syndrome, is related to intellectual developmental disorder, x-linked, syndromic 34 and myasthenic syndrome, congenital, 20, presynaptic. An important gene associated with Syndromic X-Linked Intellectual Disability 34 is NONO (Non-POU Domain Containing Octamer Binding), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Mesenchymal Stem Cells and Lineage-specific Markers. Affiliated tissues include cerebellum and brain, and related phenotypes are relative macrocephaly and delayed speech and language development
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Infant
<1/1000000
5
109
5

Medical Symptom

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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

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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
Journal
Year
IF
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