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- Bf8274fa01aa41f7f5a5d81ffd645aea2 NCIT_P378 "NCI" @default.
- Bf8274fa01aa41f7f5a5d81ffd645aea2 type Axiom @default.
- Bf8274fa01aa41f7f5a5d81ffd645aea2 annotatedProperty IAO_0000115 @default.
- Bf8274fa01aa41f7f5a5d81ffd645aea2 annotatedSource NCIT_C133742 @default.
- Bf8274fa01aa41f7f5a5d81ffd645aea2 annotatedTarget "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity." @default.