congenital muscular dystrophy congenital muscular dystrophy without intellectual disability https://github.com/monarch-initiative/mondo/issues/7566 https://www.malacards.org/card/congenital_muscular_dystrophy_without_intellectual_disability A congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. CMD-no MR MONDO:1040033 GARD:0027117 UMLS:C5190847 congenital muscular dystrophy-dystroglycanopathy without intellectual disability Orphanet:370980 MEDGEN:1681503 CMD without intellectual disability