syndromic disease hereditary disease retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome https://github.com/monarch-initiative/mondo/issues/6744 https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6877 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/retinitis_pigmentosa_deafness_impaired_intellectual_development_and_hypogonadism MONDO:0009983 MESH:C564841 retinitis pigmentosa, deafness, mental retardation, and hypogonadism UMLS:C1849401 Orphanet:3085 Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. MEDGEN:340317 GARD:0004683 insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation OMIM:268020 retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome