Congenital Brain Dysgenesis Due to Glutamine Synthetase Deficiency

Alias:
Inherited Glutamine Synthetase Deficiency
Inherited Gs Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Brain Dysgenesis Due to Glutamine Synthetase Deficiency, also known as inherited glutamine synthetase deficiency, is related to glutamine deficiency, congenital and congenital hemidysplasia with ichthyosiform erythroderma and limb defects, and has symptoms including apnea and seizures. An important gene associated with Congenital Brain Dysgenesis Due to Glutamine Synthetase Deficiency is GLUL (Glutamate-Ammonia Ligase). Affiliated tissues include brain and skin.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
1
12
2

Medical Symptom

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Gene & Mutation

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References Literature

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