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- B9d64645c42b7e91ffcd641eac162c4c2 hasDbXref "NCIT:C126746" @default.
- B9d64645c42b7e91ffcd641eac162c4c2 type Axiom @default.
- B9d64645c42b7e91ffcd641eac162c4c2 annotatedProperty IAO_0000115 @default.
- B9d64645c42b7e91ffcd641eac162c4c2 annotatedSource MONDO_0800044 @default.
- B9d64645c42b7e91ffcd641eac162c4c2 annotatedTarget "A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities." @default.