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MCID: NRD038
MIFTS: 12
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Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy
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:57
Inheritance:
autosomal recessive
Miscellaneous:
three patients from 2 unrelated consanguineous families have been reported (last curated december 2017) Classifications: |
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UniProtKB/Swiss-Prot
:
75
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).
Description 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
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy.
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