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Human Disease
Alkuraya-Kucinskas syndrome
- Term ID
- DOID:0111555
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0111555 )
- is a type of
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