progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
|
DIAPH1 | Causal | ClinGen |