Aldred syndrome
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| Aldred syndrome | |
|---|---|
| Other names | Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion |
Aldred syndrome is an X-linked recessive genetic disorder. It is mainly characterized by a form of intellectual disability and retinitis pigmentosa. The syndrome was first described by geneticist Micheala Aldred in 1994.
Cause
Aldred syndrome is caused by a deletion on the p11.3 area of the X-chromosome.