Global developmental delay, progressive ataxia, and elevated glutamine

Preferred Label : Global developmental delay, progressive ataxia, and elevated glutamine;

Symbol : GDPAG;

CISMeF acronym : GDPAG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glutaminase deficiency with impaired intellectual development and progressive ataxia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by a trinucleotide repeat expansion (CGA)n in the glutaminase gene (GLS, 138280.0005);

Laboratory abnormalities : Elevated glutamine; Normal organic acids; Normal orotic acid; Normal ammonia;

Prefixed ID : #618412;

Details

Origin ID

618412;

UMLS CUI

C5193080;

Genes related to phenotype
- Glutaminase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Global developmental delay [HPO term]
- Progressive cerebellar ataxia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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