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 | 496641 | TBCD | Causal Pathogenic evidence from ClinVar | - | ClinVar |