sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2
MONDO:0980701Mondo
Findings
No curated finding names sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 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
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
40 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.
- Adducted thumbHPOHP:0001181
- 1 of 1 reported patient
- ArachnodactylyHPOHP:0001166
- 1 of 1 reported patient
- AutismHPOHP:0000717
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 1 of 1 reported patient
- Cubitus valgusHPOHP:0002967
- 1 of 1 reported patient
- Delayed ability to roll overHPOHP:0032989
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Dental malocclusionHPOHP:0000689
- 1 of 1 reported patient
- DroolingHPOHP:0002307
- 1 of 1 reported patient
- EncephalomalaciaHPOHP:0040197
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
Show the remaining 28
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hyperextensible hand jointsHPOHP:0005639
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
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.
- MOCS3HGNC:15765
- Limited · ClinGen · Autosomal recessive · 2026