Diffuse cerebral and cerebellar atrophy–intractable seizures–progressive microcephaly syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY - INTRACTABLE SEIZURES - PROGRESSIVE MICROCEPHALY SYNDROME | QARS1 | Causal | ClinGen, ClinVar, Disgenet |