ODCs

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2 OMIM references -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Congenital hereditary facial paralysis with variable hearing loss

Isolated aniridia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HOXB1	(0.75)	PAX6

Citations in the biomedical literature:

Congenital hereditary facial paralysis with variable hearing loss		Isolated aniridia
	Synonym(s): - Congenital hereditary facial palsy with variable deafness - Congenital hereditary facial palsy with variable hearing loss - Congenital hereditary facial paralysis with variable deafness		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Isolated aniridia
	Very frequent - Aniridia / iris hypoplasia - Autosomal dominant inheritance - Macular dystrophy / absence / hypoplasia of the macula - Nystagmus - Visual loss / blindness / amblyopia Frequent - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Glaucoma
Congenital hereditary facial paralysis with variable hearing loss
(no data available)