ODCs

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1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
20 signs/symptoms

Ocular albinism with congenital sensorineural deafness

Agnathia - holoprosencephaly - situs inversus

MITF	(UniProt - OMIM)		OTX2	(UniProt - OMIM)
TYR	(UniProt - OMIM)		PRRX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MITF	(0.52)	OTX2

Citations in the biomedical literature:

Ocular albinism with congenital sensorineural deafness		Agnathia - holoprosencephaly - situs inversus
	Synonym(s): - Waardenburg syndrome type 2 with ocular albinism		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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

Agnathia - holoprosencephaly - situs inversus
	Very frequent - Absent / decreased / thin eyebrows - Anomalies of eyelids, eyelashes and lacrimal system - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Corpus callosum / septum pellucidum total / partial agenesis - Cranial nerve anomalies - Cyclopia - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypoplastic mandibula / partial absence of the mandibula - Low set ears / posteriorly rotated ears - Microglossia / aglossia / hypoglossia / tongue hypoplasia - Micropenis / small penis / agenesis - Microstomia / little mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Polyhydramnios - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Single nare / abouphalia - Situs inversus visceralis / colon / intestine trasposition / heterotaxia - Stillbirth / neonatal death - Synotia
Ocular albinism with congenital sensorineural deafness
(no data available)