Phenotypes associated with the disease sudden infant death-dysgenesis of the testes syndrome (OMIM:608800):
- Ambiguous genitalia, male (HP:0000033): Ambiguous genitalia in an individual with XY genetic gender. Evidence: IEA. (OMIM:608800)
- Exaggerated startle response (HP:0002267): An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. Evidence: PCS. Frequency: 21/21. (PMID:15273283)
- Abnormal pattern of respiration (HP:0002793): An anomaly of the rhythm or depth of breathing. Evidence: IEA. (OMIM:608800)
- Hypothermia (HP:0002045): Reduced body temperature due to failed thermoregulation. Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:15273283)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:15273283)
- Stridor (HP:0010307): Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. Evidence: TAS. (OMIM:608800)
- Partial development of the penile shaft (HP:0008708): A congenital condition of the external male genitalia in which the shaft of the penis fails to fully develop. Evidence: IEA. (OMIM:608800)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:15273283)
- Staccato cry (HP:0025431): A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations. Evidence: TAS. (OMIM:608800)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:15273283)
- Sertoli cell hypoplasia (HP:6001316): Abnormal decrease in the number of Sertoli cells in the testis. Evidence: TAS. (OMIM:608800)
- Abnormality of the voice (HP:0001608). Evidence: IEA. (OMIM:608800)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:15273283)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: PCS. Frequency: 21/21. Onset: Infantile onset (HP:0003593). (PMID:15273283)
- Laryngospasm (HP:0025425): A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe. Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:15273283)
- Tongue fasciculations (HP:0001308): Fasciculations or fibrillation affecting the tongue muscle. Evidence: PCS. (PMID:15273283)
- Cardiorespiratory arrest (HP:0006543). Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:15273283)
- Dysplastic testis (HP:0008733): A descriptive term denoting a developmental anomaly of the male gonad characterized by architectural disorganization of the testicular parenchyma, which may include irregular or poorly formed seminiferous tubules, a thinned tunica albuginea, and increased or fibrotic interstitial tissue. Macroscopically, the testis may range from near-normal in size and appearance to a small, firm, or streak-like structure. Evidence: PCS. (PMID:15273283)
- Dysplastic testis (HP:0008733): A descriptive term denoting a developmental anomaly of the male gonad characterized by architectural disorganization of the testicular parenchyma, which may include irregular or poorly formed seminiferous tubules, a thinned tunica albuginea, and increased or fibrotic interstitial tissue. Macroscopically, the testis may range from near-normal in size and appearance to a small, firm, or streak-like structure. Evidence: IEA. (OMIM:608800)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:608800)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: IEA. (OMIM:608800)
- Bronchoconstriction (HP:4000007): Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath. Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:15273283)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. (PMID:15273283)
- Sudden death (HP:0001699): Rapid and unexpected death. Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:15273283)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. (PMID:15273283)