Term Name: Alkuraya-Kucinskas syndrome
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.
Ontology: Human Disease [DOID:0111555]   ( DOID:0111555 )

Relationships
is a type of: autosomal recessive disease syndrome