3-methylglutaconic aciduria type 9
MONDO:0044724Mondo
Findings
No curated finding names 3-methylglutaconic aciduria type 9 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
- Infantile onset
HPO, annotations 2026-09-02
Features
41 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
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- 3-Methylglutaric aciduriaHPOHP:0003344
- 1 of 1 reported patient
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- ChoreoathetosisHPOHP:0001266
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Epileptic spasmHPOHP:0011097
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- Long eyelashesHPOHP:0000527
- 1 of 1 reported patient
Show the remaining 29
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Severe intellectual disabilityHPOHP:0010864
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- 1 of 1 reported patient
- StrabismusHPOHP:0000486
- 1 of 1 reported patient
- Wide intermamillary distanceHPOHP:0006610
- 1 of 1 reported patient
- Abnormal speech patternHPOHP:0002167
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.
- TIMM50HGNC:23656
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: 3-methylglutaconic aciduria type 9
- Also called
- 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndromeMGA9