Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Disease Term Disease ID Gene Symbol Classification References Source
EARLY-ONSET PROGRESSIVE NEURODEGENERATION, BLINDNESS, ATAXIA, SPASTICITY SYNDROME
C4749947
UCHL1 Unknown — Disgenet
EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME
352654MONDO:0014209
UCHL1 Causal
23359680 28007905 29735986
ClinVar Disgenet Orphanet