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5 OMIM references -
5 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Congenital muscular dystrophy with cerebellar involvement
Autosomal recessive limb-girdle muscular dystrophy type 2I

FKRP FKRP
GMPPB
POMGNT1
POMT1
POMT2


COMMON
GENES
FKRP



Citations in the biomedical literature:


Congenital muscular dystrophy with cerebellar involvement
FKRP GMPPB POMGNT1 POMT1 POMT2
Autosomal recessive limb-girdle muscular dystrophy type 2I



Congenital muscular dystrophy with cerebellar involvement
Autosomal recessive limb-girdle muscular dystrophy type 2I

Synonym(s):
- CMD with cerebellar involvement
- CMD-CRB

Synonym(s):
- LGMD2I
- Limb girdle muscular dystrophy due to FKRP deficiency

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.