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Metadata
ID	DOID:0111555
Name	Alkuraya-Kucinskas syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/25558065, https://www.ncbi.nlm.nih.gov/pubmed/29290337
Xrefs	OMIM:617822
Synonyms	ALKKUCS [EXACT]
Parent Relationships	is_a syndrome is_a autosomal recessive disease