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NEDMEHM
MCID: NRD063
MIFTS: 10
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Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination (NEDMEHM)
Categories:
Genetic diseases, Neuronal diseases
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Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...
MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination:
Name: Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
58
6
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth or early infancy two unrelated patients have been reported (last curated march 2019) Classifications: |
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MalaCards based summary
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Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination, is also known as nedmehm. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination is MTHFS (Methenyltetrahydrofolate Synthetase).
Description from OMIM:
618367
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Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:618367 |
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Articles related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination:
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Genes related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination:6
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination.
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