has material basis in germline mutation in ITGA7 congenital muscular dystrophy due to integrin alpha-7 deficiency https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/muscular_dystrophy_congenital_due_to_integrin_alpha_7_deficiency UMLS:C2750786 congenital muscular dystrophy caused by mutation in ITGA7 congenital muscular dystrophy with ITGA7 deficiency OMIM:613204 MESH:C567709 MEDGEN:413044 congenital muscular dystrophy with integrin alpha-7 deficiency ITGA7 congenital muscular dystrophy Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. MONDO:0013177 Orphanet:34520 GARD:0012587 muscular dystrophy, congenital, due to ITGA7 deficiency DOID:0110639 congenital muscular dystrophy