| Disease ID | Source | Name | Description |
| 618356 | OMIM | Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) | An autosomal recessive neurodevelopmental disorder with early onset and a highly variable phenotype. Disease features include hypotonia apparent from birth, poor feeding, global developmental delay with absence of reaction to touch and no eye contact, infantile-onset progressive ataxia and demyelinating peripheral neuropathy. The disease is caused by variants affecting the gene represented in this entry. |