isolated methylmalonic aciduria cblD type
MONDO:0700298Mondo
Findings
No curated finding names isolated methylmalonic aciduria cblD 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
- Third trimester onset
HPO, annotations 2026-09-02
Features
16 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.
- ComaHPOHP:0001259
- 1 of 1 reported patient
- Decreased total leukocyte countHPOHP:0001882
- 1 of 1 reported patient
- DehydrationHPOHP:0001944
- 1 of 1 reported patient
- HyperammonemiaHPOHP:0001987
- 1 of 1 reported patient
- Interictal EEG abnormalityHPOHP:0025373
- 1 of 1 reported patient
- Intracranial hemorrhageHPOHP:0002170
- 1 of 1 reported patient
- KetoacidosisHPOHP:0001993
- 1 of 1 reported patient
- Methylmalonic aciduriaHPOHP:0012120
- 2 of 2 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
- Necrotizing enterocolitisHPOHP:0033165
- 1 of 1 reported patient
- Neonatal respiratory distressHPOHP:0002643
- 1 of 1 reported patient
- Premature birthHPOHP:0001622
- 1 of 1 reported patient
Show the remaining 4
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
- 1 of 1 reported patient
- HomocystinuriaHPOHP:0002156
- 0 of 2 reported patients
- HyperhomocystinemiaHPOHP:0002160
- 0 of 2 reported patients
Where it sits
- A kind of