ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
10 signs/symptoms

Foveal hypoplasia - presenile cataract

Aniridia - cerebellar ataxia - intellectual deficit

PAX6

Citations in the biomedical literature:

Foveal hypoplasia - presenile cataract		Aniridia - cerebellar ataxia - intellectual deficit
	Synonym(s): - O'Donnell-Pappas syndrome		Synonym(s): - Gillespie syndrome

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

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): (no data available)

	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 recessive

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

Foveal hypoplasia - presenile cataract		Aniridia - cerebellar ataxia - intellectual deficit
	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		Very frequent - Aniridia / iris hypoplasia - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Expressionless face / amimia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Hypotonia - Movement disorder - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Anomalies of ear and hearing - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches