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2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Hemimegalencephaly
Dominant hypophosphatemia with nephrolithiasis or osteoporosis

AKT3 SLC34A1
PIK3CA SLC9A3R1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PIK3CA
(0.75)
SLC9A3R1



Citations in the biomedical literature:


Hemimegalencephaly
AKT3 PIK3CA
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
SLC34A1 SLC9A3R1



Hemimegalencephaly
Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Synonym(s):
- Unilateral megalencephaly

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.