Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Disease Term Disease ID Gene Symbol Classification References Source
EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY, MICROCEPHALY, MUSCLE WEAKNESS, OPTIC ATROPHY SYNDROME
C5567454
TBCD Unknown — Disgenet
TBCE Unknown — Disgenet
ZNF750 Unknown — Disgenet
EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME
496641MONDO:0044646
TBCD Causal
27666370 27666374 27807845
ClinGen ClinVar GWAS catalog Orphanet
TBCE Unknown
120662 121408 251488 27666369 34134906 34356170
GWAS catalog