Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy; Ndmsca

Clinical Features

Phenotypes and symptoms related to Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy; Ndmsca

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Cerebral cortical atrophy

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy; Ndmsca Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
VARS.

By Fulgent Genetics Fulgent Genetics in United States.

VARS
Specificity
100 %
Genes
100 %


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