| Disease ID | Source | Name | Description |
| 244450 | OMIM | Kaufman oculocerebrofacial syndrome (KOS) | A syndrome characterized by blepharophimosis, ptosis, mild upslanting of the palpebral fissures, epicanthus, ectodermal anomalies, developmental delay, and severe intellectual disability with absent speech. Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of the corpus callosum, and low cholesterol levels are variably present. The disease is caused by variants affecting the gene represented in this entry. |