syndromic intellectual disability intellectual disability-myopathy-short stature-endocrine defect syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/chudley_syndrome https://www.malacards.org/card/intellectual_disability_myopathy_short_stature_endocrine_defect_syndrome multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism OMIM:253320 Chudley-Rozdilsky syndrome UMLS:C1854663 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. Orphanet:3068 MONDO:0009671 GARD:0001358 MEDGEN:381471 SCTID:764959000 Chudley Rozdilsky syndrome MESH:C535458 congenital myopathy