|OBO ID: DOID:0111555|
|Term Name:||Alkuraya-Kucinskas syndrome||Search Ontology:|
|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 KIAA1109 on chromosome 4q27. (2)|
|Ontology:||Human Disease (DOID:0111555)|
|is a type of:||
OTHER Alkuraya-Kucinskas syndrome PAGES
PHENOTYPE No data available
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