ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Foveal hypoplasia - presenile cataract

Congenital hereditary facial paralysis with variable hearing loss


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

Citations in the biomedical literature:

Foveal hypoplasia - presenile cataract		Congenital hereditary facial paralysis with variable hearing loss
	Synonym(s): - O'Donnell-Pappas syndrome		Synonym(s): - Congenital hereditary facial palsy with variable deafness - Congenital hereditary facial palsy with variable hearing loss - Congenital hereditary facial paralysis with variable deafness

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant		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

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

Foveal hypoplasia - presenile cataract
	Very frequent - Anomalies of eyes and vision - Autosomal dominant inheritance - Cataract / lens opacification - Diffuse / generalised skin hyperpigmentation / melanoderma - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla Frequent - Strabismus / squint
Congenital hereditary facial paralysis with variable hearing loss
(no data available)