Orphanet: X linked intellectual disability retinitis pigmentosa syndrome

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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

Classification level: Disorder

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
ICD-11: LD90
OMIM: 300578
UMLS: C0795873
MeSH: -
GARD: 8360
MedDRA: -

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X-linked intellectual disability-retinitis pigmentosa syndrome

ORPHA:85332

A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

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