Spastic ataxia, with hypomylineating leukodystrophy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | C4479653 | NKX6-2 | Causal Pathogenic evidence from ClinVar | 15601927, 28575651, 29388673 | ClinVar |