X-linked intellectual disability-retinitis pigmentosa syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome
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.
Also known as Aldred syndrome, chromosome xp11.3 deletion syndrome, X-linked recessive, retinitis pigmentosa and intellectual disability due to del(X)(p11.3), retinitis pigmentosa and intellectual disability due to monosomy Xp11.3, retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion — per MONDO