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5 OMIM references -
7 associated genes
9 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 2
2 OMIM references -
3 associated genes
18 signs/symptoms
46,XY partial gonadal dysgenesis
WAGR syndrome

GATA4 BDNF
MAP3K1 PAX6
NR0B1 WT1
NR5A1
SRY
WT1
WWOX


COMMON
GENES
WT1



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
WAGR syndrome
BDNF PAX6



46,XY partial gonadal dysgenesis
WAGR syndrome

Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis

Synonym(s):
- Deletion 11p13
- Monosomy 11p13
- Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital 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):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
2 OMIM references -
2 MeSH references: C538295 / D017624


COMMON
SIGNS
- Ambiguous genitalia
- Hypospadias / epispadias / bent penis


46,XY partial gonadal dysgenesis
WAGR syndrome

Very frequent
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Micropenis / small penis / agenesis
- Mixed gonadal dysgenesis
- Testis anomalies

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)


Very frequent
- Aniridia / iris hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability

Frequent
- Anomalies of ear and hearing
- Cataract / lens opacification
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Protruding lips
- Ptosis
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Occasional
- Generalized obesity
- Glaucoma
- Inguinal / inguinoscrotal / crural hernia
- Scoliosis