| Disease ID | Source | Name | Description |
| 607855 | OMIM | Merosin-deficient congenital muscular dystrophy 1A (MDC1A) | Characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI. The disease is caused by variants affecting the gene represented in this entry. |
| 618138 | OMIM | Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) | A form of autosomal recessive limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDR23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs, increased serum creatine kinase, dystrophic features, gait difficulties, and white matter abnormalities on brain imaging. Age at onset generally ranges from childhood to mid-adulthood. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy. The disease is caused by variants affecting the gene represented in this entry. |