FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Alkuraya-Kucinskas syndrome ID (Ontology) DOID:0111555 (Human Disease)
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.
Also Known As "ALKKUCS"
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 Genes
 Alkuraya-Kucinskas syndrome       1
 for disease ribbon | Alkuraya-Kucinskas syndrome       1
 model of | Alkuraya-Kucinskas syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Alkuraya-Kucinskas syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "ALKKUCS" EXACT OMO:0003012
Secondary IDs
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MIM:617822