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X-linked intellectual disability-retinitis pigmentosa syndrome

Disease definition

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.

ORPHA:85332

  • Synonym(s):
    • 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
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: -
  • ICD-10: H35.5
  • OMIM: 300578
  • UMLS: C0795873
  • MeSH: -
  • GARD: 8360
  • MedDRA: -

Additional information

Further information on this disease

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