| Disease ID | Source | Name | Description |
| 618006 | OMIM | Leukodystrophy, hypomyelinating, 17 (HLD17) | An autosomal recessive neurodevelopmental disorder characterized by atrophy of cerebral cortex, spinal cord and cerebellum, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination observed on brain imaging. Clinical manifestations include lack of development, absent speech, microcephaly, spasticity, seizures, and contractures. The disease may be caused by variants affecting the gene represented in this entry. |