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GENATLAS PHENOTYPE
last update : 29/09/2005
Symbol SIDDT
Location 6q22.1
Name sudden infant death with dysgenesis of the testes syndrome
Corresponding gene TSPYL1
Main clinical features
  • signs of visceroautonomic dysfunction early in life, bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, and abnormal cardiorespiratory patterns during sleep, followed by death before age 12 months of cardiorespiratory distress associated to fetal testicular dysgenesis and ambiguous genitalia in males and abnormal staccato cry
    • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    sex-genitalia
    Type disease
    Gene product
    Name TSPY-like 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    insertion     457_458insG in Old Amish families
    Remark(s) no association of sequence variations in the TSPYL1 gene and SIDS has been found in a German cohort