juvenile sialidosis type 2
MONDO:0019681Mondo
Findings
No curated finding names juvenile sialidosis type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
38 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.
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Dysostosis multiplexHPOHP:0000943
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- VisceromegalyHPOHP:0003271
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Cherry red spot of the maculaHPOHP:0010729
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Occasional (5% to 29% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Occasional (5% to 29% of cases)
Show the remaining 26
- Abnormality of the respiratory systemHPOHP:0002086
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Corneal opacityHPOHP:0007957
- Occasional (5% to 29% of cases)
- DysmetriaHPOHP:0001310
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- Occasional (5% to 29% of cases)
- DysphoniaHPOHP:0001618
- 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
Other names
1 name
Resolves to: juvenile sialidosis type 2
- Also called
- dysmorphic sialidosis, juvenile form