Disease Term Disease ID Gene Symbol Classification References Source
Hereditary spastic paralysis, infantile onset ascending C2931441 ALS2 Causal Pathogenic evidence from ClinVar 11586298, 12145748, 23881933, 24315819, 27601211 ClinVar
Infantile-onset ascending hereditary spastic paralysis 293168 ALS2 Causal Pathogenic evidence from ClinVar - ClinVar