| Disease ID | Source | Name | Description |
| 300831 | OMIM | CK syndrome (CKS) | An X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. The disease is caused by variants affecting the gene represented in this entry. |
| 308050 | OMIM | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) | An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. The disease is caused by variants affecting the gene represented in this entry. |