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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
4 associated genes
No signs/symptoms info
Synpolydactyly type 2
Alternating hemiplegia of childhood

FBLN1 ATP1A2
ATP1A3
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FBLN1
(0.63)
CACNA1A



Citations in the biomedical literature:


Synpolydactyly type 2
FBLN1
Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3



Synpolydactyly type 2
Alternating hemiplegia of childhood

Synonym(s):
- SD2, Debeer type
- SD2b
- SPD, Debeer type
- SPD2
- Synpolydactyly, Debeer type

Synonym(s):
- AHC
- Alternating hemiplegia in childhood

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C536589

No signs/symptoms info available.