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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 2T
Congenital muscular dystrophy with cerebellar involvement

GMPPB FKRP
GMPPB
POMGNT1
POMT1
POMT2


COMMON
GENES
GMPPB



Citations in the biomedical literature:


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



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

Synonym(s):
- LGMD2T

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

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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
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.