| Individual ID | 22500628.01 |
|---|---|
| Pubmed ID | 22500628 |
| Whose mosaic mutation | Male Patient |
| Phenotypic Category | 3 |
| Disease | Megalencephaly polymicrogyria polydactyly hydrocephalus syndrome(view all the variants in this disease) |
| OMIM ID | 603387 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 119 | 10000 | AKT3 | 1 | 243859016 | 243859016 | Megalencephaly polymicrogyria polydactyly hydrocephalus syndrome | Affimetrix 6.0 CHIPseq |