POMT2-related limb-girdle muscular dystrophy R14

Orpha code: 206559OMIM code: 613158

Definicja

A form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence (or mild intellectual disability).

Disease data
Klasyfikacja

Disease

Synonimy
Autosomal recessive limb-girdle muscular dystrophy type 2N
LGMD2N
LGMD type 2N
LGMD2N
Limb-girdle muscular dystrophy type 2N
POMT2-related LGMD R14
Kod ORPHA
206559
Kod OMIM
613158
Kod ICD10
G71.0
Kod ICD11
-

No additional description.

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