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- B7fc0bfea1dffe350bd1bec015c23f3ea hasDbXref "Orphanet:163956" @default.
- B7fc0bfea1dffe350bd1bec015c23f3ea type Axiom @default.
- B7fc0bfea1dffe350bd1bec015c23f3ea annotatedProperty IAO_0000115 @default.
- B7fc0bfea1dffe350bd1bec015c23f3ea annotatedSource MONDO_0010461 @default.
- B7fc0bfea1dffe350bd1bec015c23f3ea annotatedTarget "X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures." @default.