/X-linked intellectual disability-retinitis pigmentosa syndrome

X-linked intellectual disability-retinitis pigmentosa syndrome

Rare Disease

MONDO:0010364

Also Known As

Aldred syndromechromosome xp11.3 deletion syndrome, X-linked recessiveretinitis pigmentosa and intellectual disability due to Xp11.3 microdeletionretinitis pigmentosa and intellectual disability due to del(X)(p11.3)retinitis pigmentosa and intellectual disability due to monosomy Xp11.3X-linked mental handicap-retinitis pigmentosa syndromechromosome Xp11.3 deletion syndromeintellectual disability, X-linked, with retinitis pigmentosamental retardation, X-linked, with retinitis pigmentosanonspecific intellectual disability associated with retinitis pigmentosanonspecific mental retardation associated with retinitis pigmentosa

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.