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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
7 OMIM references -
8 associated genes
5 signs/symptoms
Hypomyelination with atrophy of basal ganglia and cerebellum
46,XY complete gonadal dysgenesis

TUBB4A CBX2
DHH
DMRT1
DMRT2
MAP3K1
NR0B1
NR5A1
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB4A
(0.72)
MAP3K1



Citations in the biomedical literature:


Hypomyelination with atrophy of basal ganglia and cerebellum
TUBB4A
46,XY complete gonadal dysgenesis
CBX2 DHH DMRT1 DMRT2 MAP3K1 NR0B1
NR5A1 SRY



Hypomyelination with atrophy of basal ganglia and cerebellum
46,XY complete gonadal dysgenesis

Synonym(s):
- H-ABC

Synonym(s):
- 46,XY CGD
- 46,XY pure gonadal dysgenesis
- Swyer syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare skin disease
- Rare urogenital disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
No MeSH references

46,XY complete gonadal dysgenesis

Very frequent
- Abnormal / polycystic ovaries
- Late puberty / hypogonadism / hypogenitalism
- Male pseudohermaphrodism / lack of virilisation
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance



Hypomyelination with atrophy of basal ganglia and cerebellum

(no data available)