Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

Disease Term Disease ID Gene Symbol Classification References Source
EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY, HEARING LOSS, PONS HYPOPLASIA, BRAIN ATROPHY SYNDROME
C5567229
LIPT2 Unknown — Disgenet
TRAPPC12 Unknown — Disgenet
EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-HEARING LOSS-PONS HYPOPLASIA-BRAIN ATROPHY SYNDROME
500144MONDO:0044696
TRAPPC12 Causal
28777934
ClinVar GWAS catalog Orphanet