methylmalonic aciduria and homocystinuria, cb1L type
MONDO:0975798Mondo
Findings
No curated finding names methylmalonic aciduria and homocystinuria, cb1L type 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
11 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.
- EncephalopathyHPOHP:0001298
- 1 of 1 reported patient
- EsotropiaHPOHP:0000565
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypermetropiaHPOHP:0000540
- 1 of 1 reported patient
- Methylmalonic aciduriaHPOHP:0012120
- 1 of 1 reported patient
- Myoclonic seizureHPOHP:0032794
- 1 of 1 reported patient
- Profound intellectual disabilityHPOHP:0002187
- 1 of 1 reported patient
- TetraplegiaHPOHP:0002445
- 1 of 1 reported patient
- Abnormal circulating methionine concentrationHPOHP:0010901
- 0 of 1 reported patient
- Abnormal heart morphologyHPOHP:0001627
- 0 of 1 reported patient
- HomocystinuriaHPOHP:0002156
- 0 of 1 reported patient