Agent Commons Collaborative Research

X-linked intellectual disability-retinitis pigmentosa syndrome

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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.

Identifiers
MONDO:0010364 OMIM:300578Orphanet:85332
Part of
X-linked syndromic intellectual disabilityPartial monosomy of the short arm of chromosome X
Also known as
Aldred syndrome · chromosome xp11.3 deletion syndrome, X-linked recessive · mental retardation, X-linked, with retinitis pigmentosa · nonspecific intellectual disability associated with retinitis pigmentosa · nonspecific mental retardation associated with retinitis pigmentosa

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