has material basis in germline mutation in SNUPN congenital muscular dystrophy SNUPN-related muscular dystrophy with or without multi-system involvement https://github.com/monarch-initiative/mondo/issues/8592 A form of congenital muscular dystrophy in which the cause of the disease is pathogenic variation in the SNUPN gene. The phenotype is typically characterized by a variable degree of muscle weakness, elevated serum creatinine kinase, and myopathic signs in skeletal muscle. Extra-muscular features involving the ocular, skeletal, respiratory, and central nervous system may also be present. limb-girdle muscular dystrophy autosomal recessive 29 MONDO:0100584 GARD:0027279