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- B6e024e86d068eab78066e920387bd0c1 NCIT_P378 "NCI" @default.
- B6e024e86d068eab78066e920387bd0c1 type Axiom @default.
- B6e024e86d068eab78066e920387bd0c1 annotatedProperty IAO_0000115 @default.
- B6e024e86d068eab78066e920387bd0c1 annotatedSource NCIT_C124057 @default.
- B6e024e86d068eab78066e920387bd0c1 annotatedTarget "A rare brain developmental disorder caused by mutations in the TSEN54, TSEN2, TSEN34, or SEPSECS gene. The pons and cerebellum are the brain structures that are more severely affected. It is characterized by microcephaly, lack of voluntary motor skills, dysphagia, inability to communicate, abnormal patterns of movement, and spasticity." @default.