X-linked intellectual disability-retinitis pigmentosa syndrome

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Synonyms: Aldred syndrome | Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion | Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) | Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3

X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.

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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