3-methylglutaconic aciduria, type VIIB
MONDO:0014561Mondo
Findings
No curated finding names 3-methylglutaconic aciduria, type VIIB 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 · Progressive · Fetal onset
HPO, annotations 2026-09-02
Features
69 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
- 17 of 17 reported patients
- Very frequent (80% to 99% of cases)
- Bone marrow maturation arrestHPOHP:0033606
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 15 of 15 reported patients
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 7 of 8 reported patients
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- 7 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Decreased total neutrophil countHPOHP:0001875
- 14 of 19 reported patients
- Very frequent (80% to 99% of cases)
- NephrocalcinosisHPOHP:0000121
- Very frequent (80% to 99% of cases)
- Primary microcephalyHPOHP:0011451
- Very frequent (80% to 99% of cases)
- Renal cystHPOHP:0000107
- Very frequent (80% to 99% of cases)
- Cerebral atrophyHPOHP:0002059
- 8 of 13 reported patients
- Frequent (30% to 79% of cases)
- Abnormal basal ganglia morphologyHPOHP:0002134
- Frequent (30% to 79% of cases)
Show the remaining 57
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Frequent (30% to 79% of cases)
- Bone marrow hypocellularityHPOHP:0005528
- Frequent (30% to 79% of cases)
- ChoreoathetosisHPOHP:0001266
- 1 of 5 reported patients
- Frequent (30% to 79% of cases)
- Delayed gross motor developmentHPOHP:0002194
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
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.
- CLPBHGNC:30664
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: 3-methylglutaconic aciduria, type VIIB
- Also called
- 3-methylglutaconic aciduria type 73-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropeniaCLPB 3-methylglutaconic aciduriaMEGCANNMGA7MGCA7