Sudden infant death-dysgenesis of the testes syndrome
- Synonyms
- Sudden infant death with dysgenesis of the testes syndrome
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (13 available)
Genes See tests for all associated and related genes
Also known as: TSPYL, TSPYL1
Summary: TSPY like 1
Clinical features
Help- Abnormality of head or neck
- Tongue fasciculations
Tongue fasciculations
- MedGen UID: 65987
- Concept ID: C0239548
- Finding: Finding
Abnormality of head or neck
- Tongue fasciculations
- Abnormality of metabolism/homeostasis
- Hypothermia
Hypothermia
- MedGen UID: 5720
- Concept ID: C0020672
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypothermia
- Abnormality of the cardiovascular system
- Bradycardia
Bradycardia
- MedGen UID: 140901
- Concept ID: C0428977
- Finding: Finding
Abnormality of the cardiovascular system
- Bradycardia
- Abnormality of the digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties in infancy
- Abnormality of the genitourinary system
- Ambiguous genitalia, male
Ambiguous genitalia, male
- MedGen UID: 867446
- Concept ID: C4021823
- Finding: Finding
Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Dysplastic testes
Dysplastic testes
- MedGen UID: 324777
- Concept ID: C1837380
- Finding: Finding
Abnormality of the genitourinary system
- Partial development of the penile shaft
Partial development of the penile shaft
- MedGen UID: 373319
- Concept ID: C1837379
- Finding: Finding
Abnormality of the genitourinary system
- Testicular dysgenesis
Testicular dysgenesis
- MedGen UID: 86232
- Concept ID: C0302885
- Finding: Finding
Abnormality of the genitourinary system
- Ambiguous genitalia, male
- Abnormality of the nervous system
- Exaggerated startle response
Exaggerated startle response
- MedGen UID: 329357
- Concept ID: C1740801
- Finding: Finding
Abnormality of the nervous system
- Exaggerated startle response
- Abnormality of the respiratory system
- Abnormal pattern of respiration
Abnormal pattern of respiration
- MedGen UID: 332433
- Concept ID: C1837388
- Finding: Finding
Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Bronchoconstriction
Bronchoconstriction
- MedGen UID: 36266
- Concept ID: C0079043
- Finding: Organ or Tissue Function
Abnormality of the respiratory system
- Cardiorespiratory arrest
Cardiorespiratory arrest
- MedGen UID: 154664
- Concept ID: C0600228
- Finding: Pathologic Function
Abnormality of the respiratory system
- Laryngospasm
Laryngospasm
- MedGen UID: 44071
- Concept ID: C0023066
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Stridor
Stridor
- MedGen UID: 11613
- Concept ID: C0038450
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Abnormal pattern of respiration
- Abnormality of the voice
- Abnormality of the voice
Abnormality of the voice
- MedGen UID: 867406
- Concept ID: C4021776
- Finding: Finding
Abnormality of the voice
- Staccato cry
Staccato cry
- MedGen UID: 1376507
- Concept ID: C4476772
- Finding: Finding
Abnormality of the voice
- Abnormality of the voice
- Constitutional symptom
- Sudden death
Sudden death
- MedGen UID: 8257
- Concept ID: C0011071
- Finding: Pathologic Function
Constitutional symptom
- Sudden death
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Growth delay
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