Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy

Preferred Label : Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy;

Symbol : NDMSCA;

CISMeF acronym : NDMSCA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the valyl-tRNA synthetase gene (VARS, 192150.0001);

Laboratory abnormalities : Elevation of liver enzymes, transient (in some patients);

Prefixed ID : #617802;

Details

Origin ID

617802;

UMLS CUI

C4540493;

Genes related to phenotype
- Valyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Astigmatism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Depressed nasal bridge [HPO term]
- Dysphagia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, profound [HPO term]
- Long eyelashes [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Progressive [HPO term]
- Progressive microcephaly [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Sloping forehead [HPO term]
- Small anterior fontanelle [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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