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1 OMIM reference -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital muscular dystrophy, Ullrich type
Cobblestone lissencephaly without muscular or ocular involvement

COL6A1 LAMB1
COL6A2
COL6A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL6A1
(0.62)
LAMB1



Citations in the biomedical literature:


Congenital muscular dystrophy, Ullrich type
COL6A1 COL6A2 COL6A3
Cobblestone lissencephaly without muscular or ocular involvement
LAMB1



Congenital muscular dystrophy, Ullrich type
Cobblestone lissencephaly without muscular or ocular involvement

Synonym(s):
- Scleroatonic muscular dystrophy
- UCMD
- Ullrich disease

Synonym(s):
- Cobblestone lissencephaly without muscular or eye involvement
- Lissencephaly type 2 without muscular or eye involvement
- Lissencephaly type 2 without muscular or ocular involvement

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

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

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.