Gand Syndrome (GAND)

Gand Syndrome(来自ICD-11)

别称:

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

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