ODCs

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1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Sudden infant death - dysgenesis of the testes

Distal myopathy with posterior leg and anterior hand involvement


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TSPYL1	(0.63)	FLNC

Citations in the biomedical literature:

Sudden infant death - dysgenesis of the testes		Distal myopathy with posterior leg and anterior hand involvement
	Synonym(s): - SIDDT		Synonym(s): - Distal ABD-filaminopathy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare respiratory disease - Rare urogenital disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Sudden infant death - dysgenesis of the testes
	Very frequent - Ambiguous genitalia - Apnea / sleep apnea - Asthma / bronchospasm - Autosomal recessive inheritance - Cardiac rhythm disorder / arrhythmia - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Death in infancy - Dysautonomia / autonomous nervous sytem anomalies - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Hypothermia - Micropenis / small penis / agenesis - Respiratory rhythm disorder - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Areflexia / hyporeflexia - Failure to thrive / difficulties for feeding in infancy / growth delay - Myoclonus / fasciculations - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
Distal myopathy with posterior leg and anterior hand involvement
(no data available)