ODCs

Click node...

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
19 signs/symptoms

Anophthalmia/microphthalmia - esophageal atresia

Sudden infant death - dysgenesis of the testes


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX2	(0.63)	TSPYL1

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia		Sudden infant death - dysgenesis of the testes
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): - SIDDT

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: no data available Type of inheritance: autosomal dominant		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

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


COMMON SIGNS	- Failure to thrive / difficulties for feeding in infancy / growth delay - Micropenis / small penis / agenesis - Undescended / ectopic testes / cryptorchidia / unfixed testes

Anophthalmia/microphthalmia - esophageal atresia		Sudden infant death - dysgenesis of the testes
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Autosomal dominant inheritance - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Abnormal vertebral size / shape - Corpus callosum / septum pellucidum total / partial agenesis - External ear anomalies - Visual loss / blindness / amblyopia Occasional - Coloboma of iris - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Patent ductus arteriosus - Rib number anomalies - Sclerocornea - Ventricular septal defect / interventricular communication		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 - Respiratory rhythm disorder Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Areflexia / hyporeflexia - Myoclonus / fasciculations - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy