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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
37 signs/symptoms
46,XY partial gonadal dysgenesis
Weaver syndrome

GATA4 EZH2
MAP3K1 NSD1
NR0B1
NR5A1
SRY
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GATA4
WT1
(0.63)
(0.63)
EZH2
EZH2



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Weaver syndrome
EZH2 NSD1



46,XY partial gonadal dysgenesis
Weaver syndrome

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

Synonym(s):
- Camptodactyly - overgrowth - unusual facies

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 genetic disease
- Rare neurologic 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536687


COMMON
SIGNS
- Micropenis / small penis / agenesis


46,XY partial gonadal dysgenesis
Weaver syndrome

Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- 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
- Abnormal cry / voice / phonation disorder / nasal speech
- Advanced bone age
- Broad forehead
- Hypertelorism
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Long / large ear
- Loose skin / skin relaxation / excess skin / creases
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Tall stature / gigantism / growth acceleration
- Thin / hypoplastic toenails
- Thin / hypoplastic / hyperconvex fingernails

Frequent
- Broad foot
- Broad / bifid thumb
- Camptodactyly of fingers
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fine hair
- Inguinal / inguinoscrotal / crural hernia
- Large hand
- Philtrum deeply grooved
- Restricted joint mobility / joint stiffness / ankylosis
- Round face

Occasional
- Autosomal dominant inheritance
- Congenital cardiac anomaly / malformation / cardiopathy
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hyperextensible joints / articular hyperlaxity
- Pes cavus
- Scoliosis
- Syndactyly of fingers / interdigital palm
- Talipes-varus / metatarsal varus
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Wide space between 1st-2nd toes