Amish, Mennonite, and Hutterite
Genetic Disorder Database

Sudden infant death with dysgenesis of the testes syndrome

Disorder
OMIM #: #608800  (Click to access OMIM database)
Disorder: Sudden infant death with dysgenesis of the testes syndrome 
Also known as: SIDDT 
Clinical
Phenotype: Infants appear normal at birth, develop signs of visceroautonomic dysfunction early in life, and die before 12 months of age due to sudden cardiorespiratory arrest; sudden death, bradycardia, hypothermia, severe gastroesophageal reflux, laryngospasm, bronchospasm, abnormal cardiorespiratory patterns during sleep Affected Males had; ambiguous genitalia, partial development of the penile shaft, testicular dysgenesis Females sexual development is normal  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: TSPYL1
Base Change: c.457dupG
Amino Acid Change:
Last updated: 2018-12-12 

References
Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Morton DH, and Stephan DA. (2004) Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc Natl Acad Sci U S A 101(32): 11689-11694.
PubMed ID: 15273283 

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