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NEDMCMS
MCID: NRD088
MIFTS: 17
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Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity (NEDMCMS)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:
Name: Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
56
6
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy variable severity progressive disorder early death (in some patients) seizures are usually refractory Classifications: |
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OMIM :
56
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) is an autosomal recessive disorder characterized by severe to profound global developmental delay, early-onset seizures, microcephaly, and polymicrogyria and/or cerebral atrophy on brain imaging. Most affected individuals are unable to walk or speak and have profoundly impaired intellectual development, as well as axial hypotonia and peripheral spasticity. Rare individuals may be less severely affected (summary by Vandervore et al., 2019). (618730)
MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity, is also known as vandervore-schot syndrome. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity is TMX2 (Thioredoxin Related Transmembrane Protein 2). Affiliated tissues include brain. |
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618730 |
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MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:40
Brain
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Articles related to Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:
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Genes related to Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:6
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity.
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