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- B0335e9be9dc896c2fb46af4bceab3e90 hasDbXref "Orphanet:2804" @default.
- B0335e9be9dc896c2fb46af4bceab3e90 type Axiom @default.
- B0335e9be9dc896c2fb46af4bceab3e90 annotatedProperty IAO_0000115 @default.
- B0335e9be9dc896c2fb46af4bceab3e90 annotatedSource MONDO_0010708 @default.
- B0335e9be9dc896c2fb46af4bceab3e90 annotatedTarget "A syndrome characterized by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant." @default.