Term Name: | Alkuraya-Kucinskas syndrome |
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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 ) |