Gemignani syndrome
MONDO:0016159Mondo
Findings
No curated finding names Gemignani syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
13 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 testis morphologyHPOHP:0000035
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Delayed pubertyHPOHP:0000823
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- Hemiplegia/hemiparesisHPOHP:0004374
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- Impaired pain sensationHPOHP:0007328
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
- Hypopigmented skin patchesHPOHP:0001053
- Frequent (30% to 79% of cases)
- Hypoplasia of penisHPOHP:0008736
- Frequent (30% to 79% of cases)
Show the remaining 1
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Gemignani syndrome
- Also called
- spinocerebellar ataxia-amyotrophy-deafness syndrome