OBO ID: DOID:0111555
Term Name: Alkuraya-Kucinskas syndrome Search Ontology:
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 KIAA1109 on chromosome 4q27. (2)
References:
Ontology: Human Disease   (DOID:0111555)
OTHER Alkuraya-Kucinskas syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BLTP1 Alkuraya-Kucinskas syndrome 617822
PHENOTYPE No data available

CITATIONS (1)