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Alkuraya-Kucinskas syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111555
- Mondo Disease Ontology
- OMIM
Related Genes
