X-linked intellectual disability-retinitis pigmentosa syndrome
MONDO:0010364X-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.
Also known as: Aldred syndrome, chromosome xp11.3 deletion syndrome, X-linked recessive, 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 mental handicap-retinitis pigmentosa syndrome, chromosome Xp11.3 deletion syndrome, intellectual disability, X-linked, with retinitis pigmentosa
5 clinical trials for this condition and its sub-types.
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