Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures (NEDMAS)

Alias:
Nedmas
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures, also known as nedmas, is related to microcephaly and visual epilepsy. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Ataxia, and Seizures is SARS1 (Seryl-TRNA Synthetase 1). Affiliated tissues include brain, and related phenotypes are ataxia and muscle weakness
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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4
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Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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