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Estrogen resistance syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
1 OMIM reference -
1 associated gene
No signs/symptoms info
Estrogen resistance syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

ESR1
(UniProt - OMIM)
 TUBB3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ESR1
(0.63)
TUBB3


Citations in the biomedical literature:


Estrogen resistance syndrome
ESR1
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
TUBB3



Estrogen resistance syndrome
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
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:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.