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NEDMEHM
MCID: NRD063
MIFTS: 22
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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:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth or early infancy two unrelated patients have been reported (last curated march 2019) HPO:31
neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination:
Inheritance autosomal recessive inheritance Classifications: |
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UniProtKB/Swiss-Prot :
73
Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination: An autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy, and characterized by microcephaly, short stature, severe global developmental delay, progressive spasticity, and epilepsy. Brain imaging shows delayed myelination, hypomyelination, enlarged ventricles, and cerebellar atrophy.
MalaCards based summary : 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), and among its related pathways/superpathways is One carbon pool by folate. Related phenotypes are cerebral visual impairment and spasticity
More information from OMIM:
618367
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Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination:31 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618367 (Updated 05-Mar-2021) |
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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 (2 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
UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination:73
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination.
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Pathways related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination according to GeneCards Suite gene sharing:
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Molecular functions related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination according to GeneCards Suite gene sharing:
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