N-acetylaspartate deficiency

Preferred Label : N-acetylaspartate deficiency;

Symbol : NACED;

CISMeF acronym : NACED;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Naa deficiency; HYPOACETYLASPARTIA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the N-acetyltransferase 8-like gene (NAT8L, 610647.0001);

Laboratory abnormalities : NAA and NAAG at normal levels in urine; No detectable N-acetylaspartic acid (NAA) and N-acetyl-aspartyl-glutamate (NAAG) in CSF;

Prefixed ID : #614063;

Details

Origin ID

614063;

UMLS CUI

C3279716;

Genes related to phenotype
- N-acetyltransferase 8-like [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased body weight [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Inguinal hernia [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Short attention span [HPO term]
- Short stature [HPO term]
- Truncal ataxia [HPO term]
- Unsteady gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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