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
  • Seizures
  • Global developmental delay
  • Microcephaly
  • 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 researchers

Currently, 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
Specificity
1 %
Genes
100 %
VARS.

By Fulgent Genetics Fulgent Genetics (United States).

VARS
Specificity
100 %
Genes
100 %

You can get up to -6 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAARDENBURG SYNDROME, TYPE 3; WS3 TIBIAL HEMIMELIA SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO NEUROFIBROMATOSIS-NOONAN SYNDROME DIAMOND-BLACKFAN ANEMIA 12; DBA12 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE7 16Q24.3 MICRODELETION SYNDROME