Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

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Synonyms: Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome | Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome

A 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 (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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