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

FKRP FKRP
GMPPB
LARGE
POMT1
POMT2


COMMON
GENES
FKRP



Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2I
FKRP
Congenital muscular dystrophy with intellectual disability
GMPPB LARGE POMT1 POMT2



Autosomal recessive limb-girdle muscular dystrophy type 2I
Congenital muscular dystrophy with intellectual disability

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

Synonym(s):
- CMD with intellectual disability
- CMD-MR

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

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

No signs/symptoms info available.