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Autosomal recessive limb-girdle muscular dystrophy type 2N
1 OMIM reference -
1 associated gene
6 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Muscle-eye-brain disease
Walker-Warburg syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2K
Congenital muscular dystrophy without intellectual disability
Synonym(s):
- LGMD2N
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
POMT2 Q9UKY4607439
No signs/symptoms info available.