Gand Syndrome (GAND)

Alias:
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Mrd18
Mental Retardation, Autosomal Dominant 18
Gand
Autosomal Dominant Non-Syndromic Intellectual Disability 18
Autosomal Dominant Intellectual Developmental Disorder 18
Autosomal Dominant Mental Retardation 18
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gand Syndrome, also known as severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, is related to severe intellectual disability-poor language-strabismus-grimacing face-long fing and hypotonia. An important gene associated with Gand Syndrome is GATAD2B (GATA Zinc Finger Domain Containing 2B). Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and intellectual disability, severe
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
<1/1000000
5
27
7

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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Status
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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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