N-acetylaspartate deficiency
MONDO:0013549Mondo
Findings
No curated finding names N-acetylaspartate deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Reduced brain N-acetyl aspartate level by MRSHPOHP:0012708
- 1 of 1 reported patient
- Secondary microcephalyHPOHP:0005484
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Truncal ataxiaHPOHP:0002078
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NAT8LHGNC:26742
- Limited · ClinGen · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of