mucopolysaccharidosis-plus syndrome
MONDO:0015012Mondo
Findings
No curated finding names mucopolysaccharidosis-plus syndrome 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 · Death in childhood
HPO, annotations 2026-09-02
Features
97 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.
- Absent speechHPOHP:0001344
- 13 of 13 reported patients
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- 20 of 20 reported patients
- Very frequent (80% to 99% of cases)
- Dysostosis multiplexHPOHP:0000943
- 20 of 20 reported patients
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- 13 of 13 reported patients
- Occasional (5% to 29% of cases)
- Flexion contractureHPOHP:0001371
- 18 of 18 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 15 of 15 reported patients
- Very frequent (80% to 99% of cases)
- HypoalbuminemiaHPOHP:0003073
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Occasional (5% to 29% of cases)
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Prominent foreheadHPOHP:0011220
- 13 of 13 reported patients
- Occasional (5% to 29% of cases)
- ProteinuriaHPOHP:0000093
- 20 of 20 reported patients
- Very frequent (80% to 99% of cases)
- Recurrent bronchopulmonary infectionsHPOHP:0006538
- 5 of 5 reported patients
Show the remaining 85
- Recurrent pneumoniaHPOHP:0006532
- 2 of 2 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 18 of 18 reported patients
- Very frequent (80% to 99% of cases)
- Respiratory distressHPOHP:0002098
- 15 of 15 reported patients
- Frequent (30% to 79% of cases)
- TelecanthusHPOHP:0000506
- 13 of 13 reported patients
- Occasional (5% to 29% of cases)
- Wide noseHPOHP:0000445
- 13 of 13 reported patients
- Coarse facial featuresHPOHP:0000280
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.
- VPS33AHGNC:18179
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: mucopolysaccharidosis-plus syndrome
- Also called
- MPSPSmucopolysaccharidosis-like plus diseasemucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders