Disease ID | Source | Name | Description |
609637 | OMIM | Holoprosencephaly 5 (HPE5) | A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. The disease is caused by variants affecting the gene represented in this entry. |