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Foveal hypoplasia - presenile cataract

1 OMIM reference -
1 associated gene
7 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

2 OMIM references -
3 associated genes
18 signs/symptoms

Foveal hypoplasia - presenile cataract

WAGR syndrome

PAX6	(UniProt - OMIM)		BDNF	(UniProt - OMIM)
			PAX6	(UniProt - OMIM)
			WT1	(UniProt - OMIM)


COMMON GENES	PAX6

Citations in the biomedical literature:

Foveal hypoplasia - presenile cataract		WAGR syndrome
	Synonym(s): - O'Donnell-Pappas syndrome		Synonym(s): - Deletion 11p13 - Monosomy 11p13 - Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare oncologic disease - Rare renal disease - Rare urogenital 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 2 MeSH references: C538295 / D017624


COMMON SIGNS	- Cataract / lens opacification - Nystagmus

Foveal hypoplasia - presenile cataract		WAGR syndrome
	Very frequent - Anomalies of eyes and vision - Autosomal dominant inheritance - Diffuse / generalised skin hyperpigmentation / melanoderma - Optic nerve anomaly / optic atrophy / anomaly of the papilla Frequent - Strabismus / squint		Very frequent - Aniridia / iris hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Anomalies of ear and hearing - Hypospadias / epispadias / bent penis - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Protruding lips - Ptosis - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia Occasional - Ambiguous genitalia - Generalized obesity - Glaucoma - Inguinal / inguinoscrotal / crural hernia - Scoliosis