Alkuraya-Kucinskas Syndrome
Disease ID: disease_node_20384
Connections displayed (default: 10).
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| Dbxref | MIM:617822 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | ALKKUCS |
| Doid Label | Alkuraya-Kucinskas syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20384 |
| Doid Id | DOID_0111555 |
| Label | Alkuraya-Kucinskas Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)