Condition: Severe intellectual disability


rs1553630279 in CTNNB1 gene and Severe intellectual disability PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].

PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

rs1057521721 in GRIA3 gene and Severe intellectual disability PMID 29016847 2017 A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

rs797045140 in IQSEC2 gene and Severe intellectual disability PMID 26733290 2016 A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.

rs1554150607 in MEF2C gene and Severe intellectual disability PMID 23001426 2013 Refining the phenotype associated with MEF2C point mutations.

PMID 19876902 2009 Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.

PMID 19592390 2010 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.

PMID 20513142 2010 Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

rs869312873 in NALCN gene and Severe intellectual disability PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

rs796051881 in PEX5 gene and Severe intellectual disability PMID 26220973 2015 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

rs386834034 in POMGNT1;TSPAN1 gene and Severe intellectual disability PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs796052056 in TMEM70 gene and Severe intellectual disability PMID 18953340 2008 TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

PMID 21147908 2011 TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.

PMID 24485043 2014 Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.

rs1554041295 in ZSWIM6 gene and Severe intellectual disability PMID 29198722 2017 A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.