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- B9e29d3d87f3742b8210b472b945e9a08 hasDbXref "Orphanet:3068" @default.
- B9e29d3d87f3742b8210b472b945e9a08 type Axiom @default.
- B9e29d3d87f3742b8210b472b945e9a08 annotatedProperty IAO_0000115 @default.
- B9e29d3d87f3742b8210b472b945e9a08 annotatedSource MONDO_0009671 @default.
- B9e29d3d87f3742b8210b472b945e9a08 annotatedTarget "Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985." @default.