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5 OMIM references -
7 associated genes
9 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
44 signs/symptoms
46,XY partial gonadal dysgenesis
Baraitser-Winter syndrome

GATA4 ACTB
MAP3K1 ACTG1
NR0B1
NR5A1
SRY
WT1
WWOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAP3K1
(0.72)
ACTG1



Citations in the biomedical literature:


46,XY partial gonadal dysgenesis
GATA4 MAP3K1 NR0B1 NR5A1 SRY WT1
WWOX
Baraitser-Winter syndrome
ACTB ACTG1



46,XY partial gonadal dysgenesis
Baraitser-Winter syndrome

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

Synonym(s):
- Cerebrofrontofacial syndrome type 3
- Iris coloboma-ptosis-intellectual deficit syndrome

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 eye disease
- 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: no data available
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

46,XY partial gonadal dysgenesis
Baraitser-Winter syndrome

Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- 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
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Autosomal recessive inheritance
- Broad cheeks / cherub-like / cherubin face
- Broad nose / nasal bridge
- Coarse face
- Coloboma of iris
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epicanthic folds
- Euryblepharon / wide palpebral fissures
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High arched eyebrows
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Macrostomia / big mouth
- Micrognathia / retrognathia / micrognathism / retrognathism
- Pointed chin
- Prominent metopic suture
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short columella / depressed nasal tip
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Telecanthus / canthal dystopy
- Thin / retracted lips

Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Heterochromia / mixed colouring of iris
- Large fontanelle / delayed fontanelle closure
- Long / large / bulbous nose
- Low hair line (back)
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Restricted joint mobility / joint stiffness / ankylosis
- Retinoschisis / retinal / chorioretinal coloboma
- Short neck
- Trigonocephaly

Occasional
- Coloboma of the optic nerve
- Microcornea
- Puffy eyelids
- Scoliosis
- Thumb duplication / distal bifid thumb phalangeal bone
- Transient cerebral ischemia / stroke
- Webbed neck / pterygium colli