| Disease ID | Source | Name | Description |
| 618822 | OMIM | Myopathy, congenital, with respiratory insufficiency and bone fractures (MYORIBF) | An autosomal recessive muscular disorder characterized by severe hypotonia apparent at birth, poor feeding, ulnar deviation of the hands, laterally deviated feet, fractures of the long bones, respiratory insufficiency due to muscle weakness, and death in infancy. The disease is caused by variants affecting the gene represented in this entry. |
| 618823 | OMIM | Myopathy, congenital proximal, with minicore lesions (MYOPMIL) | An autosomal recessive, slowly progressive muscular disorder characterized by primarily proximal muscle weakness, neonatal hypotonia leading to delayed motor development, mildly delayed walking in childhood, and difficulty running or climbing. Cardiac function is unaffected, but most patients have obstructive sleep apnea. Muscle biopsy shows type 1 fiber predominance with disorganized Z-lines and minicores that disrupt the myofibrillar striation pattern. The disease is caused by variants affecting the gene represented in this entry. |