Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy; Ndmsca
Table of contents:
Genes related to Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy; Ndmsca
- VARS
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 |
---|
![]() 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 % |
![]() 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 moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1 NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD ACROCAPITOFEMORAL DYSPLASIA; ACFD GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 NEPHRONOPHTHISIS 20; NPHP20 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B; ARCI4B