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Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
1 associated gene
2 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital muscular dystrophy without intellectual disability
Walker-Warburg syndrome
Synonym(s):
- Autosomal recessive LGMD due to ISPD deficiency
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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
ISPD A4D126614631
No signs/symptoms info available.