|
NEDMCMS
MCID: NRD088
MIFTS: 23
|
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity (NEDMCMS)
Categories:
Genetic diseases, Neuronal diseases
|
|
|
|
MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:
Name: Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
57
73
29
6
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy variable severity progressive disorder early death (in some patients) seizures are usually refractory HPO:31
neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications: |
|
OMIM® :
57
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) (Updated 05-Mar-2021)
MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity, is also known as nedmcms. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity is TMX2 (Thioredoxin Related Transmembrane Protein 2). Affiliated tissues include brain, and related phenotypes are hyperreflexia and global developmental delay UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity: An autosomal recessive neurodevelopmental disorder characterized by developmental delay, severe to profound intellectual disability, congenital microcephaly, cortical polymicrogyria, lissencephaly, reduced central white matter volume, and drug-resistant epilepsy, lack of speech, absent ambulation and a progressive neurodegenerative course in most patients. Early death may occur in some patients. |
|
|
Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:31 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618730 (Updated 05-Mar-2021) |
|
|
MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:40
Brain
|
Articles related to Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:
|
Genes related to Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:6
UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:73
|
|
Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity.
|
|
|
|