| Disease ID | Source | Name | Description |
| 618124 | OMIM | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (PNRIID) | An autosomal recessive disorder characterized by early childhood-onset of peripheral sensorimotor neuropathy, progressive distal muscle weakness, atrophy in hands and feet, and gait difficulties, often with loss of ambulation. Most affected individuals also have impaired intellectual development, although some have normal cognition. Additional features may include eye movement abnormalities, claw hands, foot deformities, and scoliosis. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. |