Disease Term Disease ID Gene Symbol Classification References Source
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 363412 DARS1 Causal Pathogenic evidence from ClinVar - ClinVar
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY C3809008 DARS1 Causal Pathogenic evidence from ClinVar 23643384, 24357685, 25527264 ClinVar