Alkuraya-Kucinskas syndrome (DOID:0111555)
Alliance: disease page
Synonyms: ALKKUCS
Alt IDs: OMIM:617822
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.