| Gene | Associated with MACROCEPHALY/AUTISM SYNDROME in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| PTEN | OMIM, HUMSAVAR | HGNC link | 10q23.31 | 10 | 276950, 608089, 275355, 176807, PS155600, PS137800, 605309, 607174, 153480, PS158350 |