| Disease ID | Source | Name | Description |
| 616602 | OMIM | Craniosynostosis 6 (CRS6) | A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. The disease is caused by variants affecting the gene represented in this entry. |
| 618736 | OMIM | Structural brain anomalies with impaired intellectual development and craniosynostosis (BAIDCS) | A disease characterized by microcephaly, agenesis of corpus callosum, abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial absence of the cerebellar vermis with fusion of the cerebellar hemispheres. Intellectual development is moderately to severely impaired. Bicoronal synostosis, scoliosis, and tethered cord may be present. The disease is caused by variants affecting the gene represented in this entry. |