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NDMSCA
MCID: NRD038
MIFTS: 15
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Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy (NDMSCA)
Categories:
Genetic diseases, Neuronal diseases
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Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Seizures, and...
MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy progressive disorder five patients from 3 families have been reported (last curated october 2018) Classifications: |
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UniProtKB/Swiss-Prot
:
76
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy: An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, severe microcephaly, and cortical atrophy.
MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy, is also known as ndmsca. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy is VARS (Valyl-TRNA Synthetase). Related phenotypes are intellectual disability and seizures
Description from OMIM:
617802
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Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:33
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:617802 |
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Genes related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:6 (show all 22)
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy.
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