sudden infant death-dysgenesis of the testes syndrome
Findings
No curated finding names sudden infant death-dysgenesis of the testes syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.
Definition from the Mondo Disease Ontology (MONDO:0012124), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
25 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.
- Exaggerated startle responseHPOHP:0002267
- 21 of 21 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 21 of 21 reported patients · Infantile onset
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Very frequent (80% to 99% of cases)
- Abnormal pattern of respirationHPOHP:0002793
- Very frequent (80% to 99% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Very frequent (80% to 99% of cases)
- ArrhythmiaHPOHP:0011675
- Very frequent (80% to 99% of cases)
Show the remaining 13
- Small scrotumHPOHP:0000046
- Very frequent (80% to 99% of cases)
- Abnormality of the voiceHPOHP:0001608
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- HyporeflexiaHPOHP:0001265
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
- Frequent (30% to 79% of cases)
- OphthalmoplegiaHPOHP:0000602
- Frequent (30% to 79% 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.
- TSPYL1HGNC:12382
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: sudden infant death-dysgenesis of the testes syndrome
- Also called
- SIDDT