ODCs

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Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Frontonasal dysplasia with alopecia and genital anomaly

1 OMIM reference -
1 associated gene
29 signs/symptoms

Anophthalmia/microphthalmia - esophageal atresia

Frontonasal dysplasia with alopecia and genital anomaly

SOX2

(UniProt - OMIM)

ALX4

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX2	(0.63)	ALX4

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia		Frontonasal dysplasia with alopecia and genital anomaly
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): - ALX4-related FNDAG - Craniofrontonasal dysplasia with alopecia and hypogonadism - Frontonasal dysplasia with alopecia and genital abnomality

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Corpus callosum / septum pellucidum total / partial agenesis - Intellectual deficit / mental / psychomotor retardation / learning disability - Undescended / ectopic testes / cryptorchidia / unfixed testes

Anophthalmia/microphthalmia - esophageal atresia		Frontonasal dysplasia with alopecia and genital anomaly
	Very frequent - Autosomal dominant inheritance - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Abnormal vertebral size / shape - External ear anomalies - Visual loss / blindness / amblyopia Occasional - Coloboma of iris - Failure to thrive / difficulties for feeding in infancy / growth delay - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Patent ductus arteriosus - Rib number anomalies - Sclerocornea - Ventricular septal defect / interventricular communication		Very frequent - Alopecia - Anteverted nares / nostrils - Autosomal recessive inheritance - Bifid skull - Bifid tip / cleft nose / supernumerary nose - Blepharophimosis / short palpebral fissures - Brachycephaly / flat occiput - Depressed nasal bridge - Hypertelorism - Late puberty / hypogonadism / hypogenitalism - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Nystagmus - Philtrum flat / large / featureless / absent cupidon bows - Scalp / skull defect - Strabismus / squint - Telecanthus / canthal dystopy Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Fine hair - Frontal bossing / prominent forehead - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Intrauterine growth retardation - Low set ears / posteriorly rotated ears - Oligoamnios - Tooth shape anomaly