X-linked intellectual disability-retinitis pigmentosa syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, WITH RETINITIS PIGMENTOSA
Aldred syndrome
Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion
Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)
Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3
Number of Symptoms 13
OrphanetNr: 85332
OMIM Id: 300578
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Partial monosomy of the short arm of chromosome X
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000662) Nyctalopia rare [HPO] 92 / 7739
3
 (HPO:0000505) Visual impairment 297 / 7739
4
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0004322) Short stature 1232 / 7739
7
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
8
 (OMIM) Mental retardation, mild to moderate 33 / 7739
9
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
10
 (OMIM) Decreased visual acuity, in some female carriers 1 / 7739
11
 (OMIM) Retinitis pigmentosa, severe, early-onset 1 / 7739
12
 (OMIM) Night blindness, in some female carriers 1 / 7739
13
 (OMIM) Normal intelligence in carrier females 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Aldred et al. (1994) reported a family in which 5 males in 3 generations had mild to moderate mental retardation associated with severe, early-onset retinitis pigmentosa. Some affected males also had microcephaly. Although some obligate female carriers showed ...
Molecular genetics OMIM In a follow-up of the family reported by Aldred et al. (1994), Zhang et al. (2006) found that affected individuals had a 1.27-Mb deletion on Xp11, including the 5-prime end of the RP2 gene, the SLC9A7 (300368), ZNF673 ...