alpha-mannosidosis, infantile form
MONDO:0017732Mondo
Findings
No curated finding names alpha-mannosidosis, infantile form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
88 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.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abnormal skeletal morphologyHPOHP:0011842
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Dysostosis multiplexHPOHP:0000943
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- OligosacchariduriaHPOHP:0010471
- Very frequent (80% to 99% of cases)
- Otitis mediaHPOHP:0000388
- Very frequent (80% to 99% of cases)
- Recurrent infectionsHPOHP:0002719
- Very frequent (80% to 99% of cases)
- Specific learning disabilityHPOHP:0001328
- Very frequent (80% to 99% of cases)
- AstheniaHPOHP:0025406
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
Show the remaining 76
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Facial shape deformationHPOHP:0011334
- Frequent (30% to 79% of cases)
- HepatosplenomegalyHPOHP:0001433
- Frequent (30% to 79% of cases)
- HypermetropiaHPOHP:0000540
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: alpha-mannosidosis, infantile form
- Also called
- lysosomal alpha-D-mannosidase deficiency, infantile form