Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome

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.

Also known as: retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome, retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome, insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability, insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation, retinitis pigmentosa, deafness, intellectual disability, and hypogonadism, retinitis pigmentosa, deafness, mental retardation, and hypogonadism, retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome itself.