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Human Disease

Alkuraya-Kucinskas syndrome

Term ID
DOID:0111555
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. (2)
References
Ontology
Human Disease   ( DOID:0111555 )
Relationships
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Genes Involved
Zebrafish Models