Disorder "X-linked intellectual disability-retinitis pigmentosa syndrome"
Found 2 records
Disorder information
Disorder name:
X-linked intellectual disability-retinitis pigmentosa syndrome
Disoder ID:
OMIM entry:
Synonyms:
Retinitis pigmentosa and intellectual disability due to del(X)(p11.3), Aldred syndrome, Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3, Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion
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.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| RPGRIP1L | RPGRIP1L:c.2231G>A(p.Arg744Gln) | Expressivity | Altered severity | Pedigree analysis | The polymorphism is associated with the disease severity.more | more |
| IQCB1 | IQCB1:c.1178T>A(p.Ile393Asn) | Expressivity | Altered severity | Pedigree analysis | The polymorphism is associated with the disease severity.more | more |
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