|
rs1554032789
|
|
Intellectual Disability
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs142698837
|
|
Intellectual Disability
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs118203933
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
The presence of mental retardation and relative infrequency of skeletal fractures distinguish the clinical course of the patients with the Arabic mutation from those of the American and Belgian patients with the His 107-->Tyr mutation.
|
1301935 |
1992 |
|
rs5030849
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our observation suggests that homozygosity for the Arg-261-Gln mutation can indeed result in "mild" PKU with little or perhaps no mental retardation, but also indicates that in such women, who may go unrecognized if not screened for, blood phenylalanine is elevated enough to cause the maternal PKU syndrome in their offspring.
|
1915502 |
1991 |
|
rs132630328
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Patient 4 had both GK deficiency with mental retardation and a GK missense mutation (D440V).
|
8651297 |
1996 |
|
rs45517305
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Clinical symptoms of the patient with the S1221X mutation are facial angiofibroma, ungual fibroma, hypomelanotic macules, epilepsy and mental retardation.
|
10215407 |
1998 |
|
rs122460151
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
This suggests that the R12S change is not the primary cause of short stature, microcephaly, and mental retardation in this family.
|
10607480 |
1999 |
|
rs28934906
|
|
Intellectual Disability
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Chronic osteomyelitis in patients with sickle cell disease.
|
10944834 |
2000 |
|
rs1445362103
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
|
10946356 |
2000 |
|
rs121434612
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
|
10946356 |
2000 |
|
rs61748420
|
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28.
|
11309367 |
2001 |
|
rs61748392
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28.
|
11309367 |
2001 |
|
rs28934908
|
|
Intellectual Disability
|
|
0.050 |
GeneticVariation
|
BEFREE |
The authors recently described a novel A140V MECP2 missense mutation in an Italian family with X-linked semidominant mental retardation.
|
11805248 |
2002 |
|
rs28934908
|
|
Intellectual Disability
|
|
0.050 |
GeneticVariation
|
BEFREE |
This strongly suggests that A140V is a hot spot of mutation resulting in moderate to severe MR in males.
|
11885030 |
2002 |
|
rs28934906
|
|
Intellectual Disability
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Prenatal diagnosis in Rett syndrome.
|
12065946 |
2003 |
|
rs28934908
|
|
Intellectual Disability
|
|
0.050 |
GeneticVariation
|
BEFREE |
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
|
12325019 |
2002 |
|
rs121434613
|
|
Intellectual Disability
|
|
0.020 |
GeneticVariation
|
BEFREE |
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.
|
12884430 |
2003 |
|
rs255012
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Particularly with rs255012 [corrected], CC [corrected] genotype frequency was significantly higher in MR cases than in controls (chi squared [corrected] = 9.18, p = 0.00246).
|
15286152 |
2004 |
|
rs225012
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Single marker analysis showed a positive association of MR with rs225012 and rs225010.
|
15286152 |
2004 |
|
rs225010
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
Single marker analysis showed a positive association of MR with rs225012 and rs225010.
|
15286152 |
2004 |
|
rs28934908
|
|
Intellectual Disability
|
|
0.050 |
GeneticVariation
|
BEFREE |
In this study, DNA samples from 363 male individuals with syndromic and non-syndromic mental retardation</span> and other psychiatric diseases were screened for A140V (419C>T) mutation in the MECP2 gene, considered the most frequent MECP2 mutation in males.
|
15814190 |
2005 |
|
rs28934904
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
The mother exhibited slight mental retardation and was a carrier for R133C.
|
16122633 |
2005 |
|
rs723744
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
In haplotype analysis, however, we found a haplotype CGTG+ (rs723744/G+6649C/T+6690C/rs2276382/del9) showed a weak positive association with MR (chi(2) = 6.699, p = 0.035).
|
16362527 |
2006 |
|
rs2276382
|
|
Intellectual Disability
|
|
0.010 |
GeneticVariation
|
BEFREE |
In haplotype analysis, however, we found a haplotype CGTG+ (rs723744/G+6649C/T+6690C/rs2276382/del9) showed a weak positive association with MR (chi(2) = 6.699, p = 0.035).
|
16362527 |
2006 |
|
rs180177035
|
|
Intellectual Disability
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
|
16439621 |
2006 |