ODCs

Click node...

2 OMIM references -
3 associated genes
18 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
10 signs/symptoms

WAGR syndrome

Aniridia - cerebellar ataxia - intellectual deficit

Citations in the biomedical literature:

WAGR syndrome		Aniridia - cerebellar ataxia - intellectual deficit
	Synonym(s): - Deletion 11p13 - Monosomy 11p13 - Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit		Synonym(s): - Gillespie syndrome

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - 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: 2 OMIM references - 2 MeSH references: C538295 / D017624		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Aniridia / iris hypoplasia - Anomalies of ear and hearing - Intellectual deficit / mental / psychomotor retardation / learning disability

WAGR syndrome		Aniridia - cerebellar ataxia - intellectual deficit
	Frequent - Cataract / lens opacification - Hypospadias / epispadias / bent penis - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Nystagmus - 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		Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Expressionless face / amimia Frequent - Hypotonia - Movement disorder - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches