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Congenital muscular dystrophy without intellectual disability
2 OMIM references -
4 associated genes
11 connected diseases
No signs/symptoms info
Disease Type of connection
Walker-Warburg syndrome
Muscle-eye-brain disease
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2M
Familial isolated dilated cardiomyopathy
Proximal myotonic myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2N
Synonym(s):
- CMD without intellectual disability
- CMD-no MR
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
FKRP Q9H9S5606596
FKTN O75072607440
ISPD A4D126614631
POMT1 Q9Y6A1607423
No signs/symptoms info available.