Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy; Ndmsca
Genes related to Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy; Ndmsca
Clinical FeaturesPhenotypes and symptoms related to Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy; Ndmsca
- Intellectual disability
- Global developmental delay
- Intellectual disability, severe
- Cerebral cortical atrophy
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
Researches and researchersCurrently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
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 (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -6 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Rare Disease Search Engine
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