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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
Reference
DiseaseOntology: Alkuraya-kucinskas syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD07226 | Q2LD37 | 84162 | BLTP1 | Bridge-like lipid transfer protein family member 1 | Homo sapiens |
