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.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation
related
retinitis pigmentosa, deafness, mental retardation, and hypogonadism
related
retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome
exact
retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome
exact