encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
MONDO:0009585Mondo
Findings
No curated finding names encephalopathy due to beta-mercaptolactate-cysteine disulfiduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
24 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.
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- ArachnodactylyHPOHP:0001166
- Frequent (30% to 79% of cases)
- Convex nasal ridgeHPOHP:0000444
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Genu valgumHPOHP:0002857
- Frequent (30% to 79% of cases)
Show the remaining 12
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Hypoplasia of the ear cartilageHPOHP:0100720
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- MicromeliaHPOHP:0002983
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
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.
- MPSTHGNC:7223
- No Known Disease Relationship · ClinGen · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
2 names
Resolves to: encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
- Also called
- 3-mercaptopyruvate sulfurtransferase deficiencyAmpola syndrome