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retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome

Disease Summary
Associated Targets (0)

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Mondo Description 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 Term and Equivalent IDs
MONDO:0009983:  retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
GARD:0004683: 
MESH:C564841: 
Orphanet:3085: 
UMLS:C1849401: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found