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- B15ad5f2548a96b6d9fc44476c250bff5 hasDbXref "Orphanet:2804" @default.
- B15ad5f2548a96b6d9fc44476c250bff5 type Axiom @default.
- B15ad5f2548a96b6d9fc44476c250bff5 annotatedProperty IAO_0000115 @default.
- B15ad5f2548a96b6d9fc44476c250bff5 annotatedSource MONDO_0010708 @default.
- B15ad5f2548a96b6d9fc44476c250bff5 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.