sudden infant death with dysgenesis of the testes syndrome

An autosomal recessive disorder (OMIM:608800) in which affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die of cardiorespiratory arrest by age one.
Clinical findings
Bradycardia, hypothermia, severe gastroesophageal reflux, laryngo- and bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT have foetal testicular dysgenesis and ambiguous genitalia, intra-abdominal testes, dysplastic testes, deficient foetal testosterone production, fusion and folding of the gonadal sac, and partial development of the penile shaft; female sexual development is normal. Affected infants have an unusual staccato cry, similar to the cry of a goat.
Molecular pathology
Defects of TSPYL1 cause sudden infant death with dysgenesis of the testes syndrome.

单词	sudden infant death with dysgenesis of the testes syndrome
释义	sudden infant death with dysgenesis of the testes syndrome sudden infant death with dysgenesis of the testes syndrome An autosomal recessive disorder (OMIM:608800) in which affected infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die of cardiorespiratory arrest by age one. Clinical findings Bradycardia, hypothermia, severe gastroesophageal reflux, laryngo- and bronchospasm, and abnormal cardiorespiratory patterns during sleep. Genotypic males with SIDDT have foetal testicular dysgenesis and ambiguous genitalia, intra-abdominal testes, dysplastic testes, deficient foetal testosterone production, fusion and folding of the gonadal sac, and partial development of the penile shaft; female sexual development is normal. Affected infants have an unusual staccato cry, similar to the cry of a goat. Molecular pathology Defects of TSPYL1 cause sudden infant death with dysgenesis of the testes syndrome. AcronymsSeeSIDDT
随便看	matrix algebraic separation matrix algebra tableau matrix analysis matrix applications development toolkit matrix-array camera matrix assisted laser desorption matrix-assisted laser desorption ionisation matrix assisted laser desorption ionisation mass spectrometry matrix-assisted laser desorption-ionization matrix assisted laser desorption ionization mass spectrometry matrix assisted laser desorption ionization - time of flight matrix-assisted pulsed-laser evaporation direct writing matrix association region matrix astrological software matrix attached region matrix attachment region matrix attachment site matrix balance sheet matrix band matrix bar code matrix barcode matrix bias matrix biological film matrix (biology) matrix calculus