Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity

Preferred Label : Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity;

Symbol : NEDMCMS;

CISMeF acronym : NEDMCMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vandervore-schot syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thioredoxin-related transmembrane protein 2 gene (TMX2, 616715.0001);

Prefixed ID : #618730;

Details

Origin ID

618730;

UMLS CUI

C5231480;

Genes related to phenotype
- Thioredoxin-related transmembrane protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure with generalized onset [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral white matter hypoplasia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, severe [HPO term]
- Lissencephaly [HPO term]
- Microcephaly [HPO term]
- Pachygyria [HPO term]
- Polymicrogyria [HPO term]
- Seizure [HPO term]
- Spastic tetraplegia [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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