Neurodevelopmental disorder with microcephaly, ataxia, and seizures

Preferred Label : Neurodevelopmental disorder with microcephaly, ataxia, and seizures;

Symbol : NEDMAS;

CISMeF acronym : NEDMAS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the seryl-tRNA synthetase 1 gene (SARS1, 607529.0001);

Prefixed ID : #617709;

Details

Origin ID

617709;

UMLS CUI

C4540188;

Genes related to phenotype
- Seryl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability, moderate [HPO term]
- Microcephaly [HPO term]
- Muscle weakness [HPO term]
- Pes planus [HPO term]
- Seizure [HPO term]
- Slender build [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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