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- Be92009355ee56f971e83c2a12740dfd1 hasDbXref "Orphanet:85286" @default.
- Be92009355ee56f971e83c2a12740dfd1 type Axiom @default.
- Be92009355ee56f971e83c2a12740dfd1 annotatedProperty IAO_0000115 @default.
- Be92009355ee56f971e83c2a12740dfd1 annotatedSource MONDO_0010277 @default.
- Be92009355ee56f971e83c2a12740dfd1 annotatedTarget "X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome." @default.