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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Atelosteogenesis type I
Unverricht-Lundborg disease

FLNB CSTB
PRICKLE1
SCARB2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNB
(0.49)
CSTB



Citations in the biomedical literature:


Atelosteogenesis type I
FLNB
Unverricht-Lundborg disease
CSTB PRICKLE1 SCARB2



Atelosteogenesis type I
Unverricht-Lundborg disease

Synonym(s):
- AO1
- AOI
- Giant cell chondrodysplasia
- Spondylo-humero-femoral dysplasia

Synonym(s):
- Progressive myoclonic epilepsy type 1
- ULD

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C535396
External references:
3 OMIM references -
1 MeSH reference: D020194

No signs/symptoms info available.