| Disease ID | Source | Name | Description |
| 617822 | OMIM | Alkuraya-Kucinskas syndrome (ALKKUCS) | An autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features. The disease is caused by variants affecting the gene represented in this entry. |