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Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.
Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 12:37 AM UTC
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Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Features include always present findings: Exaggerated startle response and Feeding difficulties in infancy. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Exaggerated startle response, Tongue fasciculations |
Digestive system | 2 | Gastroesophageal reflux, Feeding difficulties in infancy |
Lungs and breathing | 2 | Apnea, Bronchoconstriction |
Heart and blood vessels | 1 | Bradycardia |
Voice | 1 | Abnormality of the voice |
Muscles | 1 | Tongue fasciculations |
Growth and development | 1 | Growth delay |
Age of onset: infancy.
TSPYL1 function has not been fully characterized.
Sudden infant death-dysgenesis of the testes syndrome is associated with mutations in the TSPYL1 gene on chromosome 6.
Genetic testing for TSPYL1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for sudden infant death-dysgenesis of the testes syndrome.
1 publication has been identified in PubMed for sudden infant death-dysgenesis of the testes syndrome. Research spans Epidemiology / Natural History (100%).
Kingsmore SF (2025). [PMID: 41358299](https://pubmed.ncbi.nlm.nih.gov/41358299/). *medRxiv*. [Epidemiology / Natural History]