Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy (NDMSCA)

Alias:
Ndmsca
Neurodevelopmental Disorder with Microcephaly, Seizures, Cortical Atrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy, also known as ndmsca, is related to microcephaly and combined oxidative phosphorylation deficiency 2. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy is VARS1 (Valyl-TRNA Synthetase 1), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
5
5

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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