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Browse result for Alkuraya-kucinskas syndrome

※ introduction

    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.

Reference
DiseaseOntology: Alkuraya-kucinskas syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD07226Q2LD3784162
BLTP1
Bridge-like lipid transfer protein family member 1
Homo sapiens