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- B4055d1803747824fdfcc4b1299dcad04 NCIT_P378 "NCI" @default.
- B4055d1803747824fdfcc4b1299dcad04 type Axiom @default.
- B4055d1803747824fdfcc4b1299dcad04 annotatedProperty IAO_0000115 @default.
- B4055d1803747824fdfcc4b1299dcad04 annotatedSource NCIT_C75462 @default.
- B4055d1803747824fdfcc4b1299dcad04 annotatedTarget "A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene." @default.