| Disease ID | Source | Name | Description |
| 618619 | OMIM | Weiss-Kruszka syndrome (WSKA) | An autosomal dominant, multiple congenital anomaly syndrome with variable expressivity and complete penetrance. Patients manifest developmental delay, hypotonia, feeding difficulties, craniofacial abnormalities including ptosis, abnormal head shape, downslanting palpebral fissures, metopic ridging, and craniosynostosis. Variable congenital heart defects can be observed in some patients. A few patients show agenesis of the corpus callosum on brain imaging. The disease is caused by variants affecting the gene represented in this entry. |