Preferred Label : Limb-girdle muscular dystrophy-dystroglycanopathy C7;
ICD-11 definition : Limb-girdle muscular dystrophy-dystroglycanopathy (type C7; MDDGC7) is caused by homozygous
mutation in the ISPD gene on chromosome 7p21. ISPD encodes an isoprenoid synthase
domain-containing protein. It is characterized by childhood onset of proximal muscle
weakness affecting the lower limbs more than the upper limbs.;
ICD-11 synonym : MDDGC7;
Origin ID : 787117844;
Automatic exact mappings (from CISMeF team)
Limb-girdle muscular dystrophy-dystroglycanopathy (type C7; MDDGC7) is caused by homozygous
mutation in the ISPD gene on chromosome 7p21. ISPD encodes an isoprenoid synthase
domain-containing protein. It is characterized by childhood onset of proximal muscle
weakness affecting the lower limbs more than the upper limbs.
