|
rs200115000
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, a de novo candidate mutation (p.Arg292Pro) in the gamma isoform of CAMK2 (CAMK2G) was identified in a patient with severe intellectual disability (ID), but the mechanism(s) by which this mutation causes ID is unknown.
|
30184290 |
2018 |
|
rs727505397
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report three severely affected girls with heterozygous CASK missense mutations (M519T (2), G659D (1)) who exhibit ID, microcephaly, and hindbrain hypoplasia.
|
29426960 |
2018 |
|
rs797045036
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A missense variant (c. 1171T>C) in the <i>CRBN</i> gene was identified in five individuals with severe intellectual disability (ID) in a consanguineous Saudi family.
|
28143899 |
2017 |
|
rs869312865
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.(Asp227His) variant is located in the same aminoterminal protein domain as the recently published p.(Arg217Trp), which was found at the homozygous state in two patients with a similar phenotype of severe intellectual disability and autistic features but without epilepsy.
|
28051072 |
2017 |
|
rs794729668
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys) in MED25 as the cause of a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability in seven patients from four unrelated families, all originating from the same village.
|
25792360 |
2015 |
|
rs201968272
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, using homozygosity mapping in a Lebanese consanguineous family followed by exome sequencing, we identified a novel homozygous mutation (c.788G>A [p.R263Q]) in DDX11 in three affected siblings with severe intellectual disability and many of the congenital abnormalities reported in the WABS original case.
|
23033317 |
2013 |
|
rs387906739
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this report the identification of two de novo missense mutations in DYNC1H1 (p.Glu1518Lys and p.His3822Pro) in two patients with severe intellectual disability and variable neuronal migration defects is described.
|
22368300 |
2012 |
|
rs387906740
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this report the identification of two de novo missense mutations in DYNC1H1 (p.Glu1518Lys and p.His3822Pro) in two patients with severe intellectual disability and variable neuronal migration defects is described.
|
22368300 |
2012 |
|
rs202153551
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel c.2854C>T (p.R952X) was identified in an ambulatory girl who had severe mental retardation, multiple types of seizures without Rett-like features.
|
21775177 |
2011 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Infant C677T MTHFR polymorphism and severe mental retardation.
|
17149733 |
2007 |
|
rs63485860
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The novel missense change, c.617G > C (p.G206A), was present in one autistic male with severe mental retardation and absence of language, and segregates in his maternal family.
|
17427193 |
2007 |
|
rs28934908
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a family study, the A140V mutation was found to segregate in the affected daughter and in four adult sons with severe mental retardation.
|
11007980 |
2000 |
|
rs1057521721
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
|
29016847 |
2017 |
|
rs1553630279
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
|
27915094 |
2017 |
|
rs1554041295
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
|
29198722 |
2017 |
|
rs386834034
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
rs797045140
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
|
26733290 |
2016 |
|
rs869312873
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
|
26923739 |
2016 |
|
rs796051881
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
|
26220973 |
2015 |
|
rs1553630279
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
|
24668549 |
2014 |
|
rs796052056
|
|
CGT |
0.700 |
CausalMutation |
CLINVAR |
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
|
24485043 |
2014 |
|
rs1554150607
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Refining the phenotype associated with MEF2C point mutations.
|
23001426 |
2013 |
|
rs796052056
|
|
CGT |
0.700 |
CausalMutation |
CLINVAR |
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
|
21147908 |
2011 |
|
rs1554150607
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
|
20513142 |
2010 |
|
rs1554150607
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
|
19592390 |
2010 |