congenital sialidosis type 2
MONDO:0019682Mondo
Findings
No curated finding names congenital sialidosis type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
42 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.
- AscitesHPOHP:0001541
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Cherry red spot of the maculaHPOHP:0010729
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Dysostosis multiplexHPOHP:0000943
- Frequent (30% to 79% of cases)
- EdemaHPOHP:0000969
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- HepatosplenomegalyHPOHP:0001433
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
Show the remaining 30
- Abnormality of the kidneyHPOHP:0000077
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Corneal opacityHPOHP:0007957
- Occasional (5% to 29% of cases)
- Developmental cataractHPOHP:0000519
- Occasional (5% to 29% of cases)
- Developmental regressionHPOHP:0002376
- Occasional (5% to 29% of cases)
- DysmetriaHPOHP:0001310
- Occasional (5% to 29% 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.
- NEU1HGNC:7758
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of