| Accession | HRS1038888 |
|---|---|
| BioSample Accession | SAMC3326175 |
| Individual accession | HRI790006 |
| Study accession | HRA006571 |
| Sample name | F1_proband |
| Sample title | CCND2 mutation |
| Collection date | 2023-10-25 |
| Sample Type | Disease |
| Description | In this study, we present a case of a child who exhibited megalencephaly, polymicrogyria, abnormal neuronal migration, and developmental delay. The proband was selected for whole-exome sequencing to identify the pathogenic mutations in this family. |
| Tissue | blood |
| Age | 2(year) |
| Release date | 2024-01-25 |