ライフサイエンスコーパス: intellectual disability

1 ssembly, and disease mutations in cancer and intellectual disability.

2 utations of hnRNP U and human epilepsies and intellectual disability.

3 tinct pleiotropic malformation syndrome with intellectual disability.

4 of hereditary spastic paraplegia (HSP) with intellectual disability.

5 the role of CNV in adults with epilepsy and intellectual disability.

6 y a reduced cerebral cortex accompanied with intellectual disability.

7 e mutations have been linked to epilepsy and intellectual disability.

8 neurodevelopmental syndromes associated with intellectual disability.

9 X5 variants that confer risk for AD, ALS and intellectual disability.

10 -functioning) and without (high-functioning) intellectual disability.

11 genesis of the corpus callosum (ACC) without intellectual disability.

12 cated in multiple mouse models of autism and intellectual disability.

13 ter, primary ovarian insufficiency, and mild intellectual disability.

14 e (FXS) is the most common form of inherited intellectual disability.

15 hat underlies neurological disorders such as intellectual disability.

16 nent of chromatin remodeling complex, causes intellectual disability.

17 nderstanding of this etiopathogenic class of intellectual disability.

18 aneous, and limb abnormalities combined with intellectual disability.

19 morphic features, profound speech delays and intellectual disability.

20 me (FXS), the most common heritable cause of intellectual disability.

21 , encephalopathy, growth failure, and severe intellectual disability.

22 ve dysfunction associated with developmental intellectual disability.

23 mon genetic cause of developmental delay and intellectual disability.

24 size at birth in addition to non-progressive intellectual disability.

25 ile X, another monogenic cause of autism and intellectual disability.

26 o have the comorbid condition of epilepsy or intellectual disability.

27 ure death, and autism spectrum disorder with intellectual disability.

28 Mutations in ZC3H14 are linked to a form of intellectual disability.

29 s expression are linked to tumorigenesis and intellectual disability.

30 other neurodevelopmental disorders, such as intellectual disability.

31 syndrome with short stature, cataracts, and intellectual disability.

32 characterized mainly by hypotonia and severe intellectual disability.

33 netic testing of individuals presenting with intellectual disability.

34 growth parameters, often in association with intellectual disability.

35 ith unexplained childhood-onset epilepsy and intellectual disability.

36 pathogenesis of autism spectrum disorder and intellectual disability.

37 e strongly linked to epileptic disorders and intellectual disability.

38 a nonsyndromic, autosomal recessive form of intellectual disability.

39 d human genetic burden for schizophrenia and intellectual disability.

40 epresents the most frequent genetic cause of intellectual disability.

41 memory, autistic features and mostly severe intellectual disability.

42 CNVs and genes in patients with epilepsy and intellectual disability.

43 ked GRIA3 gene, which has been implicated in intellectual disability.

44 patients with schizophrenia who do not have intellectual disability.

45 ons of horizontal gaze palsy, scoliosis, and intellectual disability.

46 is associated with juvenile-onset ataxia and intellectual disability.

47 mutations cause an overgrowth syndrome with intellectual disability.

48 ase family and is linked to both obesity and intellectual disability.

49 of rare copy number variants associated with intellectual disability.

50 a syndrome of growth delay, microcephaly and intellectual disability.

51 ssociation with autism spectrum disorder and intellectual disability.

52 2B variants in 24 unrelated individuals with intellectual disability.

53 ision is not accessible for many adults with intellectual disabilities.

54 ation, and more variability in the degree of intellectual disabilities.

55 fest variable degrees of developmental delay/intellectual disability (10/10), speech delay (10/10), p

56 [5.9%]; adjusted RR, 3.2; 95% CI, 2.8-3.6), intellectual disability (104 cases [2.9%] vs 137 control

57 ned to speak, and nearly all had significant intellectual disability (88%).

58 s shared by ARX-related disorders, including intellectual disability, abnormal genitalia, and structu

59 ous missense mutations in four probands with intellectual disability, abnormal neurological findings,

60 Ras mutations associated with intellectual disability abolished the spacing effect and

61 the gene for TBLR1 that are associated with intellectual disability also prevent MeCP2 binding.

62 It is one of the leading monogenic causes of intellectual disability among boys with most also displa

63 Analyses were further stratified by sex and intellectual disability among the probands.

64 ged 18 years or older, with mild to moderate intellectual disabilities and clinically significant dep

65 vation intervention (BeatIt) for people with intellectual disabilities and depression.

66 patients with autism spectrum disorders and intellectual disabilities and has been hypothesized to c

67 psychological interventions for people with intellectual disabilities and mental health problems.

68 , with potential relevance in the context of intellectual disabilities and psychiatric disorders.Brai

69 -53.01; P = 0.001) for eyes of children with intellectual disability and 21.93 (95% CI, 2.95-162.80;

70 Affected individuals exhibit growth failure, intellectual disability and a broad spectrum of developm

71 (FXS) is the most common heritable cause of intellectual disability and a leading genetic form of au

72 mate exon of ZSWIM6 who have severe-profound intellectual disability and additional central and perip

73 4.2) in individuals who, in addition to mild intellectual disability and ASD, share striking features

74 Neurodevelopmental disorders such as intellectual disability and autism are characterized by

75 ntal disorders, including a genetic cause of intellectual disability and autism called fragile X synd

76 ed with neurodevelopmental disorders such as intellectual disability and autism spectrum disorder (AS

77 Fragile-X syndrome (FXS) patients display intellectual disability and autism spectrum disorder due

78 One individual additionally presents with intellectual disability and autism spectrum disorder.

79 ophysiology that underlies multiple forms of intellectual disability and autism spectrum disorder.

80 ith a neurodevelopmental disorder, featuring intellectual disability and autism spectrum disorder.

81 TATEMENT FXS is a leading heritable cause of intellectual disability and autism spectrum disorders.

82 syndrome (FXS) is a leading genetic cause of intellectual disability and autism.

83 ter and is the most common form of heritable intellectual disability and autism.

84 neurodevelopmental disorders associated with intellectual disability and autism.

85 syndrome, the most common cause of inherited intellectual disability and autism.

86 Mutations in CTCF cause intellectual disability and autistic features in humans.

87 Human mutations in CTCF cause intellectual disability and autistic features.

88 F3-mediated transcriptional regulation cause intellectual disability and developmental delay and are

89 s from published exome studies of trios with intellectual disability and developmental disorders (ID/

90 er variations to chromosome 21 (HSA21) cause intellectual disability and Down Syndrome, but our under

91 ich result in overlapping features of severe intellectual disability and dysmorphic features.

92 ral sclerosis (ALS) and developmental delay, intellectual disability and dysmorphic features.

93 ain and whose dysfunction has been linked to intellectual disability and epilepsy.

94 n, were recently described to cause X-linked intellectual disability and epilepsy.

95 th neurodevelopmental disease generally, and intellectual disability and epileptic encephalopathy in

96 ed 25 genes showing a bias for autism versus intellectual disability and highlighted a network associ

97 uals were found to share a core phenotype of intellectual disability and hypotonia, and many had seiz

98 Genetic studies of intellectual disability and identification of monogenic

99 ption factor 1-like (MYT1L) gene in cases of intellectual disability and in the etiology of neurodeve

100 somy 21, is the most common genetic cause of intellectual disability and is associated with a greatly

101 e (FXS) is the most common form of inherited intellectual disability and is associated with up to 5%

102 rating the KATNAL1 locus in humans result in intellectual disability and microcephaly suggest that KA

103 ns in TBC1D23 who display moderate to severe intellectual disability and microcephaly.

104 his gene have developmental delay, epilepsy, intellectual disability and often autism; the most frequ

105 in GRIA4 in five unrelated individuals with intellectual disability and other symptoms.

106 deleterious sequence variants in PBX1 cause intellectual disability and pleiotropic malformations re

107 variants might lead to a syndrome including intellectual disability and preferential degeneration of

108 spectrum disorder, epileptic encephalopathy, intellectual disability and schizophrenia, in addition t

109 orders, including autism spectrum disorders, intellectual disability and schizophrenia.

110 ed by synaptic dysfunction including autism, intellectual disability and schizophrenia.

111 sing several neurological defects, including intellectual disability and seizures.

112 TSC is associated with autism, intellectual disability and severe epilepsy.

113 e, a developmental disorder characterized by intellectual disability and speech impairment; however,

114 risk of schizophrenia both with and without intellectual disability and support an overlap of geneti

115 of NONO function is a likely cause of human intellectual disability and that NONO-deficient mice hav

116 y of SIN3A is associated with mild syndromic intellectual disability and that SIN3A can be considered

117 usly implicated in ADHD), ST3GAL3 (linked to intellectual disability) and PEX2 (related to perixosoma

118 were specific to autistic spectrum disorder, intellectual disabilities, and learning difficulties (e.

119 characterized by epileptic seizures, severe intellectual disability, and autistic features.

120 n dystroglycan glycosylation, short stature, intellectual disability, and cataracts, overlapping both

121 in short stature, autism spectrum disorder, intellectual disability, and corpus callosum agenesis.

122 and are associated with developmental delay, intellectual disability, and defects involving the brain

123 man MEF2C haploinsufficiency results in ASD, intellectual disability, and epilepsy.

124 are affected by global developmental delay, intellectual disability, and expressive speech disorder

125 erized by non-progressive cerebellar ataxia, intellectual disability, and iris hypoplasia.

126 e core phenotype includes moderate to severe intellectual disability, and many individuals exhibit ce

127 ome of diabetes of youth with short stature, intellectual disability, and microcephaly.

128 th severe prenatal-onset growth retardation, intellectual disability, and muscular hypotonia revealed

129 otein associated with Pitt-Hopkins syndrome, intellectual disability, and schizophrenia (SCZ).

130 mary microcephaly, autism spectrum disorder, intellectual disability, and schizophrenia show disease-

131 alencephaly, frontal predominant pachygyria, intellectual disability, and seizures.

132 nemia, spastic diplegia, loss of ambulation, intellectual disability, and seizures.

133 a disorder of variable developmental delay, intellectual disability, and susceptibility to obesity a

134 isorder that is a leading cause of inherited intellectual disability, and the most common known cause

135 rocephaly, delayed developmental milestones, intellectual disability, and, in two out of four cases,

136 ciated with congenital hydrocephalus, severe intellectual disability, aphasia, and motor symptoms.

137 phthalmoplegia, cardiomyopathy, nonsyndromic intellectual disability, apoptosis, and the Warburg effe

138 Epilepsy and intellectual disability are associated with rare variant

139 Bipolar disorder, schizophrenia, autism and intellectual disability are complex neurodevelopmental d

140 A large proportion of CNV loci implicated in intellectual disability are risk factors for SZ, but the

141 such as autism spectrum disorders (ASDs) and intellectual disability are thought to arise largely fro

142 ildren with ASD-noID or DD suggests that the intellectual disability associated with ASD might be eti

143 It is possible that additional intellectual disability-associated CNVs increase the ris

144 and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy af

145 o share similar clinical features, including intellectual disability, attention deficit/hyperactivity

146 t overlapped 1 or more genes associated with intellectual disability, autism, and/or epilepsy were id

147 e data from 6 apparently distinct disorders (intellectual disability, autism, attention-deficit/hyper

148 d language development, often accompanied by intellectual disability, autism, dysmorphology and gastr

149 tal phenotype including developmental delay, intellectual disability, autism, hypotonia, and seizures

150 r dystrophy, early-onset cataracts, and mild intellectual disability but normal cranial magnetic reso

151 Kirrel3 gene are repeatedly associated with intellectual disabilities, but the role of Kirrel3 at sy

152 Seizures, spasticity, and intellectual disability can be present, although affecte

153 , we propose that discrete gene mutations in intellectual disability can generate "secondary" pathoph

154 ephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy incl

155 We find that patients with X-linked intellectual disability caused by mutations in CCDC22 ar

156 Association of individual intellectual disability CNV loci with SZ.

157 d 26628 controls (14252 [53.52%] female), 51 intellectual disability CNVs were analyzed.

158 Collectively, intellectual disability CNVs were significantly enriched

159 (coefficient -0.16, p=0.004) and presence of intellectual disability (coefficient -4.0, p=0.044) also

160 ders study and one from the Northern Finland Intellectual Disability cohort.

161 atients with hypotonia, developmental delay, intellectual disability, congenital anomalies, character

162 asome complex, in unrelated individuals with intellectual disability, congenital malformations, ophth

163 ider range of pediatric diagnoses, including intellectual disability, coordination disorder, and lang

164 ser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, colobom

165 trongly activated by sleep, mild to moderate intellectual disability, delayed speech development and

166 SD group was further divided into those with intellectual disabilities (developmental/cognitive and a

167 his report, we describe ten individuals with intellectual disability, developmental delay, and/or aut

168 of either autism spectrum disorder (ASD) or intellectual disability/developmental delay (ID/DD).

169 Here, we describe an intellectual disability disorder in ten individuals with

170 tal lethal motor neuron disease and X-linked intellectual disability disorders, thus highlighting the

171 y intelligence quotient (IQ) points loss and intellectual disability due to polybrominated diphenyl e

172 rome, a complex congenital anomaly including intellectual disability, epilepsy and Hirschsprung disea

173 , which commonly include developmental delay/intellectual disability, epilepsy, and autism spectrum d

174 IGDs mainly manifest as intellectual disability, epilepsy, coarse facial feature

175 11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay,

176 to brain malformations, developmental delay, intellectual disability, epilepsy, movement disorders, a

177 Burden analysis of CNVs implicated in intellectual disability (excluding known SZ CNVs) for as

178 a to evaluate a set of 51 CNVs implicated in intellectual disability (excluding the known SZ loci) in

179 ntile hypotonia, global developmental delay, intellectual disability, expressive language impairment,

180 ed with heart-rate disturbance, eye disease, intellectual disability, gastric problems, hypotonia, an

181 ng phenotypes including developmental delay, intellectual disability, hearing loss, macrocephaly, dis

182 1B) gene causes autism spectrum disorder and intellectual disability; however, the neurobiological ba

183 ), a major disorder characterized by autism, intellectual disability, hyperactivity, and seizures.

184 n-consanguineous family from Japan) who show intellectual disability, hypotonia, and early-onset seiz

185 uals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures

186 m spectrum disorder (ASD), schizophrenia and intellectual disabilities (ID), implicating this atypica

187 tations in the NMD factor gene, UPF3B, cause intellectual disability (ID) and are strongly associated

188 The leading cause of heritable intellectual disability (ID) and autism spectrum disorde

189 Intellectual disability (ID) and autism spectrum disorde

190 ted on the X chromosome, are associated with intellectual disability (ID) and autism spectrum disorde

191 r variations (CNVs) known to confer risk for intellectual disability (ID) and autism spectrum disorde

192 ovo CTNNB1 mutations as a cause of syndromic intellectual disability (ID) and autism spectrum disorde

193 understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD

194 affected individuals from four families with intellectual disability (ID) and neurological and other

195 associated with MEF2C are linked to autism, intellectual disability (ID) and schizophrenia (SCZ) - a

196 Intellectual disability (ID) disorders are genetically a

197 nsensitivity to noxious stimuli and variable intellectual disability (ID) due to mutations in the NTR

198 , but to our knowledge, the association with intellectual disability (ID) has not been investigated.

199 Intellectual disability (ID) is a clinically and genetic

200 Intellectual disability (ID) is a common condition with

201 Intellectual disability (ID) is a common neurodevelopmen

202 Intellectual disability (ID) is a highly heterogeneous d

203 Intellectual disability (ID) is a measurable phenotypic

204 Intellectual disability (ID) is a prevailing neurodevelo

205 The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times

206 ve been reported to cause X-linked recessive intellectual disability (ID) mainly in males.

207 Intellectual disability (ID) occurs in almost 3% of newb

208 e identified two GRASP1 point mutations from intellectual disability (ID) patients that showed conver

209 novo mutations (P=2.53 x 10(-10)) among ASD/intellectual disability (ID) patients.

210 KV 1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia.

211 ntion-deficit hyperactivity disorder (ADHD), intellectual disability (ID), and autism spectrum disord

212 cause of autism spectrum disorder (ASD) and intellectual disability (ID), and frequently presents wi

213 d by SLC2A1) is known to result in epilepsy, intellectual disability (ID), and movement disorder.

214 -function mutations of CTNNB1 were linked to intellectual disability (ID), and rare mutations were id

215 ffected by global developmental delay (GDD), intellectual disability (ID), severe speech impairment a

216 terized by the co-occurrence of epilepsy and intellectual disability (ID), typically with development

217 ame ancestor) with at least 1 offspring with intellectual disability (ID).

218 nes cause brain overgrowth in the context of intellectual disability (ID).

219 ause of certain forms of autosomal-recessive intellectual disability (ID).

220 O for the first time as a candidate gene for intellectual disability (ID).

221 DDX3X mutations are linked to intellectual disability (ID).

222 anules, and its gene mutations are linked to intellectual disability (ID).

223 tal factors contribute to the development of intellectual disability (ID).

224 Genetic mutations known to cause intellectual disabilities (IDs) are concentrated in spec

225 ent with 7,8-dihydroxyflavone at alleviating intellectual disabilities in the DS model.

226 sociated with epileptic encephalopathies and intellectual disability in humans, the findings of this

227 ensory dysfunctions as well as non-syndromic intellectual disability in humans.

228 w perspective on the mechanisms that lead to intellectual disability in muscular dystrophies without

229 established roles in cognitive function and intellectual disability in particular.

230 our findings suggest novel explanations for intellectual disability in Tau deficient individuals, as

231 t involvement in several X chromosome-linked intellectual disabilities, including Golabi-Ito-Hall (GI

232 dividuals with developmental delay, apparent intellectual disability, increased frequency of internal

233 from deficits in neuronal migration, severe intellectual disability, intractable epilepsy and early

234 manage challenging behaviour in adults with intellectual disability is widespread but controversial,

235 nger in patients with both schizophrenia and intellectual disability, it is also seen in patients wit

236 FXS is the most prevalent inherited cause of intellectual disability, its mechanistic underpinnings a

237 odevelopmental disorder often accompanied by intellectual disability, language impairment and medical

238 ies of having an IQ in the normal (>/=70) or intellectual disability (<70) range were calculated.

239 behavioral disorder (eg, developmental delay/intellectual disability/mental retardation, Down syndrom

240 the ASNS gene exhibit developmental delays, intellectual disability, microcephaly, intractable seizu

241 , we propose that discrete gene mutations in intellectual disability might generate "secondary" patho

242 unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO).

243 h may provide an explanation of the variable intellectual disability observed in CIPA patients.

244 h ongoing seizure activity in adulthood, (2) intellectual disability of any degree, and (3) no struct

245 ight and/or head circumference >/=+2 SD) and intellectual disability (OGID).

246 efined as those that if left untreated cause intellectual disability or a substantially shortened lif

247 f infancy with migrating focal seizures, and intellectual disability or autism without epilepsy.

248 real sets of NGS data from individuals with intellectual disability or epilepsy correctly recognizes

249 -existing epilepsy was the only predictor of intellectual disability (OR 8.0, 95% CI 1.1-59.6).

250 ,246 families with autism spectrum disorder, intellectual disability, or developmental delay, we foun

251 (active or in remission), motor disability, intellectual disability, or statement of special educati

252 sorder, substance dependence, current abuse, intellectual disability, or unstable serious physical il

253 inal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism.

254 type, including early-onset epilepsy, severe intellectual disability, postnatal microcephaly, and mov

255 ent as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia a

256 e evidence that CRBN and CUL4B are linked to intellectual disability, prompts us to hypothesize a pat

257 Here we show that the X-linked intellectual disability protein interleukin-1 receptor a

258 Intellectual disability ranged from borderline to profou

259 eft lip and cleft palate, increased risks of intellectual disability (relative risk [RR], 2.2; 95% CI

260 spectrum disorders, developmental delay and intellectual disability risk factors at embryonic day 14

261 disrupt genes associated with autism and/or intellectual disability risk variants.

262 2.1-5.7) in addition to an increased risk of intellectual disability (RR, 11.5; 95% CI, 8.5-15.6), an

263 ions of these SNPs have been associated with intellectual disabilities, schizophrenia, and synaptic p

264 Main Outcomes and Measures: Death, intellectual disability, schizophrenia, mood affective d

265 may provide a feasible strategy to treat the intellectual disability seen in Kabuki syndrome and rela

266 elopmental delay (GDD), often accompanied by intellectual disability, seizures and other features is

267 , thin corpus callosum, developmental delay, intellectual disability, seizures, optic atrophy, and sp

268 The 17-year-old female has intellectual disability, sensorineural hearing loss requ

269 n, we identified ten individuals affected by intellectual disability, speech delay, ataxia, and facia

270 nd may be disrupted in conditions that cause intellectual disability, such as Down syndrome (DS).

271 een found in animal models of disorders with intellectual disability, such as Noonan syndrome.

272 enting with autism spectrum disorder or mild intellectual disability, suggesting that the phenotypic

273 ividuals from 6 independent families with an intellectual disability syndrome associated with seizure

274 Kabuki syndrome is a Mendelian intellectual disability syndrome caused by mutations in

275 se autosomal recessive cerebellar ataxia and intellectual disability syndrome in humans.

276 OS, also reported as blepharophimosis-ptosis-intellectual disability syndrome).

277 ed autosomal-recessive cerebellar ataxia and intellectual disability syndrome, and three forms of her

278 ion deficiency and a previously unrecognized intellectual disability syndrome.

279 Snyder-Robinson syndrome (SRS), an X-linked intellectual disability syndrome; however, little is kno

280 spectrum of genetic disorders with X-linked intellectual disability that are difficult to range as L

281 ency is a preventable and treatable cause of intellectual disability that should be considered in the

282 In patients with schizophrenia who also have intellectual disability, this burden is concentrated in

283 Thus, ARID1B deficiency may cause intellectual disability via abnormal brain wiring induce

284 Furthermore, a highly increased risk of intellectual disability was found for the deletion (IRR,

285 Motor and intellectual disability was seen predominantly in partic

286 AS(12V) mutation results in a severe form of intellectual disability, which parallels mental deficits

287 ith unexplained childhood-onset epilepsy and intellectual disability who were recruited from the Toro

288 urodevelopmental phenotype, including severe intellectual disability with absent speech, epilepsy, an

289 phenotype of KS includes moderate to severe intellectual disability with absent speech, hypotonia, b

290 ise ten females and five males, and all have intellectual disability with delayed speech, a history o

291 pathogenic de novo variants in GRIA4 lead to intellectual disability with or without seizures, gait a

292 whereas GluN2B variants were associated with intellectual disability with or without seizures.

293 omprising six patients with mild to moderate intellectual disability, with or without epilepsy and be

294 iated with autism spectrum disorder (ASD) or intellectual disability without autism (ID).

295 nd OCPs influences offspring risk of ASD and intellectual disability without autism (ID).

296 utations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic features:

297 G>T (p.L254F)) that segregates with X-linked intellectual disability (XLID) in an affected family.

298 X-linked intellectual disability (XLID) is a clinically and genet

299 tic protein, each led to X-chromosome-linked intellectual disability (XLID).

300 e cause neurodevelopmental disorder X-linked intellectual disability (XLID).