3-methylglutaconic aciduria, type VIIA
MONDO:0859237Mondo
Findings
No curated finding names 3-methylglutaconic aciduria, type VIIA yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
17 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.
- 3-Methylglutaconic aciduriaHPOHP:0003535
- 6 of 6 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 5 of 6 reported patients
- HypotoniaHPOHP:0001252
- 5 of 6 reported patients
- AnemiaHPOHP:0001903
- 4 of 6 reported patients
- Secondary microcephalyHPOHP:0005484
- 4 of 6 reported patients
- Atypical absence seizureHPOHP:0007270
- 3 of 6 reported patients
- Abnormal periventricular white matter morphologyHPOHP:0002518
- 2 of 6 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 6 reported patients
- Absent speechHPOHP:0001344
- 1 of 6 reported patients
- AnisopoikilocytosisHPOHP:0004823
- 1 of 6 reported patients
Show the remaining 5
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 6 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 6 reported patients
- Generalized-onset seizureHPOHP:0002197
- 1 of 6 reported patients
- Myoclonic seizureHPOHP:0032794
- 1 of 6 reported patients
- Neonatal omphalitisHPOHP:0032435
- 1 of 6 reported patients
Where it sits
- A kind of