X-linked intellectual disability-retinitis pigmentosa syndrome
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.
MONDO:0017004
partial monosomy of the short arm of chromosome X
is_a
MONDO:0020119
X-linked syndromic intellectual disability
is_a
Aldred syndrome
exact
X-linked mental handicap-retinitis pigmentosa syndrome
related
chromosome xp11.3 deletion syndrome, X-linked recessive
exact
mental retardation, X-linked, with retinitis pigmentosa
related
nonspecific intellectual disability associated with retinitis pigmentosa
related
nonspecific mental retardation associated with retinitis pigmentosa
related
retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion
exact
retinitis pigmentosa and intellectual disability due to del(X)(p11.3)
exact
retinitis pigmentosa and intellectual disability due to monosomy Xp11.3
exact