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- Bea8ed282aa37b13de5a24156c8f203f0 hasDbXref "NCIT:C133742" @default.
- Bea8ed282aa37b13de5a24156c8f203f0 type Axiom @default.
- Bea8ed282aa37b13de5a24156c8f203f0 annotatedProperty IAO_0000115 @default.
- Bea8ed282aa37b13de5a24156c8f203f0 annotatedSource MONDO_0013656 @default.
- Bea8ed282aa37b13de5a24156c8f203f0 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.