| Term Name: | Alkuraya-Kucinskas syndrome | 
|---|---|
| Synonyms: | ALKKUCS | 
| Definition: | A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27. | 
| Ontology: | Human Disease [DOID:0111555] ( DOID:0111555 ) |