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- B6c11eb9197ea39cf1e35934f6c99fb00 hasDbXref "Orphanet:3068" @default.
- B6c11eb9197ea39cf1e35934f6c99fb00 type Axiom @default.
- B6c11eb9197ea39cf1e35934f6c99fb00 annotatedProperty IAO_0000115 @default.
- B6c11eb9197ea39cf1e35934f6c99fb00 annotatedSource MONDO_0009671 @default.
- B6c11eb9197ea39cf1e35934f6c99fb00 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.