methylmalonic acidemia with homocystinuria, type cblX
MONDO:0010657Mondo
Findings
No curated finding names methylmalonic acidemia with homocystinuria, type cblX yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Antenatal onset
HPO, annotations 2026-09-02
Features
15 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.
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Methylmalonic acidemiaHPOHP:0002912
- 7 of 7 reported patients
- Methylmalonic aciduriaHPOHP:0012120
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 12 of 14 reported patients
- SeizureHPOHP:0001250
- 9 of 14 reported patients
- HyperhomocystinemiaHPOHP:0002160
- 5 of 10 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 14 reported patients
- AthetosisHPOHP:0002305
- Occasional (5% to 29% of cases)
- HomocystinuriaHPOHP:0002156
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- 5 of 14 reported patients
- ChoreoathetosisHPOHP:0001266
- 4 of 14 reported patients
- HypotoniaHPOHP:0001252
- 3 of 14 reported patients
Show the remaining 3
- HypsarrhythmiaHPOHP:0002521
- 3 of 14 reported patients
- Infantile spasmsHPOHP:0012469
- 3 of 14 reported patients
- ChoreaHPOHP:0002072
- 1 of 14 reported patients
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.
- HCFC1HGNC:4839
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2018
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: methylmalonic acidemia with homocystinuria, type cblX
- Also called
- combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblXmethylmalonic aciduria and homocysteinemia, cblx type, X-linked recessivemethylmalonic aciduria with homocystinuria, type cblX