ライフサイエンスコーパス: intellectual disability

1 her forms of epilepsy associated with severe intellectual disability.

2 sion program that is aberrantly expressed in intellectual disability.

3 Syndrome (FXS), the most prevalent inherited intellectual disability.

4 renia, and 63% versus 24% of individuals had intellectual disability.

5 X syndrome (FXS), the most common inherited intellectual disability.

6 n factor mutated in families with hereditary intellectual disability.

7 a (Dyrk1a) and mutations in both genes cause intellectual disability.

8 tein-truncating variants presented with mild intellectual disability.

9 o CTCF, including schizophrenia, autism, and intellectual disability.

10 ome (DS) is the most common genetic cause of intellectual disability.

11 h an overlapping phenotype of mild to severe intellectual disability.

12 tributes to trisomy-21/Down-syndrome-related intellectual disability.

13 ypical behaviours and high co-morbidity with intellectual disability.

14 X syndrome is rare but a prominent cause of intellectual disability.

15 (NDDs) such as autism spectrum disorder and intellectual disability.

16 s, including Fragile X syndrome, autism, and intellectual disability.

17 e result in autosomal recessive nonsyndromic intellectual disability.

18 as-yet poorly defined syndrome that includes intellectual disability.

19 t the C11orf46(R236H) mutant associated with intellectual disability.

20 es, and 1% of the population are affected by intellectual disability.

21 ng for the loss-of-function mutation causing intellectual disability.

22 early-life seizures, autistic behaviors, and intellectual disability.

23 ependent sodium channels cause severe autism/intellectual disability.

24 ficiency of OGT could contribute to X-linked intellectual disability.

25 ith unexplained childhood-onset epilepsy and intellectual disability.

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

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

28 nderstand the aetiology of Zbtb11-associated intellectual disability.

29 interactions in the pathogenesis of ASD and intellectual disability.

30 ntly described as a cause of severe X-linked intellectual disability.

31 -onset peripheral neuropathy with or without intellectual disability.

32 of Slack channels, resulting in epilepsy and intellectual disability.

33 isorders including often severe epilepsy and intellectual disability.

34 associated with autism spectrum disorder and intellectual disability.

35 that altered lipid metabolism contributes to intellectual disability.

36 own syndrome (DS) is the most common form of intellectual disability.

37 ll adhesion molecule NLGN4X result in ASD or intellectual disability.

38 cephaly, autism spectrum disorder (ASD), and intellectual disability.

39 llitus, sensorineural hearing loss, and mild intellectual disability.

40 ders characterized by epilepsy with comorbid intellectual disability.

41 coexisting conditions, including autism and intellectual disability.

42 and neurodevelopmental defects are linked to intellectual disability.

43 activity recently identified in humans with intellectual disability.

44 mosome-linked disease associated with severe intellectual disabilities.

45 genes, including some involved in autism and intellectual disabilities.

46 FMRP leads to sensory dysfunction and severe intellectual disabilities.

47 autism spectrum disorder (ASD), seizures and intellectual disability(2,4,5).

48 les from mothers of children with autism and intellectual disability; (2) an inflammatory cytokine mi

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

50 ith de novo heterozygous mutations displayed intellectual disability, ambulation deficits, severe lan

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

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

53 es of neurodevelopmental disorders including intellectual disabilities and epilepsies.

54 es including Autism Spectrum Disorder (ASD), intellectual disabilities and Phelan-McDermid syndrome.

55 -53.01; P = 0.001) for eyes of children with intellectual disability and 21.93 (95% CI, 2.95-162.80;

56 iduals, with male-to-female ratios of 2:1 in intellectual disability and 4:1 in autism spectrum disor

57 al phenotypic overlap, including features of intellectual disability and abnormal growth, underscorin

58 MRI to scan autistic males (n = 19) without intellectual disability and age- and IQ-matched typicall

59 USP9X mutations in patients with intellectual disability and autism ablate its catalytic

60 ral brain disorders, including the inherited intellectual disability and autism spectrum disorder, fr

61 ing protein 1A (CC2D1A), which is mutated in intellectual disability and autism spectrum disorder, we

62 iquitinating enzyme previously implicated in intellectual disability and autism spectrum disorder.

63 aptic disorder, and a disease model for both intellectual disability and autism spectrum disorder.

64 in individuals with Pitt-Hopkins syndrome-an intellectual disability and autism spectrum disorder.

65 ild (E1483K) or severe epilepsy (R1872W), or intellectual disability and autism without epilepsy (R16

66 the fourth mutation, A1622D, causing severe intellectual disability and autism without epilepsy, we

67 ontrast, the R1620L mutation associated with intellectual disability and autism-but not epilepsy-redu

68 hared and specific biological information of intellectual disability and CHD by conducting systems bi

69 ild to moderate neurodevelopmental delay and intellectual disability and conclude that variants putat

70 show brain abnormalities with microcephaly, intellectual disability and delayed gross motor and spee

71 Here, we report 19 subjects with intellectual disability and developmental delay carrying

72 ts in RALA were also described as a cause of intellectual disability and developmental delay, indicat

73 heterozygous patient diagnosed with profound intellectual disability and epilepsy and systematically

74 ntribute to this proposed monogenic cause of intellectual disability and epilepsy remain unresolved.

75 four children from independent families with intellectual disability and epilepsy, revealing bi-allel

76 lution, in a patient diagnosed with profound intellectual disability and epilepsy.

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

78 neurodevelopmental disorder characterized by intellectual disability and epilepsy.

79 were recently reported to be associated with intellectual disability and epilepsy; the functional eff

80 enriched for syndromic causes of autism and intellectual disability and for genes that in later deve

81 on of trisomy 21, we have learned much about intellectual disability and genetic risk factors for con

82 individuals had developmental delays and/or intellectual disability and impairments in speech and la

83 yndrome is the most common form of inherited intellectual disability and is caused by a deficiency of

84 neurodevelopmental disorder characterized by intellectual disability and lack of speech.

85 alencephaly, a subgroup with higher rates of intellectual disability and larger cerebral volumes, may

86 yseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis (

87 is case-control study, we used data from the Intellectual Disability and Mental Health: Assessing the

88 t variants in KDM4B are associated with GDD/ intellectual disability and neuroanatomical defects.

89 elative short stature and variable degree of intellectual disability and neurological features as the

90 rological phenotype, with high prevalence of intellectual disability and optic nerve atrophy/hypoplas

91 icated in Xia-Gibbs syndrome, which involves intellectual disability and other features.

92 lepsy, cerebral palsy, feeding difficulties, intellectual disability and other neurological and behav

93 d NETO genes in individuals with Scz, ASD or intellectual disability and population controls; perform

94 ofound hypotonia and muscle weakness, severe intellectual disability and progressive cerebellar atrop

95 s confers risk for schizophrenia, autism and intellectual disability and provide new genetic and phar

96 neurodevelopmental disorders with epilepsy, intellectual disability and schizophrenia (SCZ).

97 culminating in a recognizable syndrome with intellectual disability and signature brain and congenit

98 potonia, feeding difficulties, hypogonadism, intellectual disability and sleep apnea.

99 est that SHANK3 deficiency may predispose to intellectual disability and socio-communicative impairme

100 gical manifestations were present, including intellectual disability and spasticity.

101 e (FXS) is the most common form of inherited intellectual disability and the leading monogenetic caus

102 yndrome (FXS) is the leading known inherited intellectual disability and the most common genetic caus

103 cause of a neurodevelopmental disorder with intellectual disability and variable brain anomalies.

104 ilies with the common phenotypic features of intellectual disability and/or global developmental dela

105 orders, including autism spectrum disorders, intellectual disabilities, and schizophrenia, are linked

106 disorder (CDD) is characterized by epilepsy, intellectual disability, and autistic features, and CDKL

107 otonia (which had been present since birth), intellectual disability, and autistic features.

108 a few individuals with developmental delay, intellectual disability, and brain malformations have mi

109 of CHARGE syndrome, developmental delay and intellectual disability, and cerebellar hypoplasia.

110 th disruptive mutations present with autism, intellectual disability, and delayed language and motor

111 sorders, including autism spectrum disorder, intellectual disability, and epilepsy.

112 our unrelated individuals with microcephaly, intellectual disability, and epilepsy.

113 four children who share developmental delay, intellectual disability, and mild facial and digital mor

114 Na(v)1.6 mutations cause epilepsy, intellectual disability, and movement disorders.

115 ral sclerosis, Huntington disease, dementia, intellectual disability, and other brain diseases from 1

116 associated with cancer-related pathologies, intellectual disability, and schizophrenia are increasin

117 e disease marked by autistic-like behaviors, intellectual disability, and seizures.

118 al phalanges with small finger and toenails, intellectual disability, and seizures; this condition ov

119 ons, seizures, global developmental delay or intellectual disability, and severe sleep disturbance.

120 ADHD often co-occurs with intellectual disability, and shared overlapping genetics

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

122 eafness, onychodystrophy, osteodystrophy and intellectual disability are associated with a spectrum o

123 ia (Scz), autism spectrum disorder (ASD) and intellectual disability are common complex neurodevelopm

124 Brain abnormalities and intellectual disability are commonly observed in individ

125 genetic variations found in individuals with intellectual disability are the causes for the phenotype

126 are associated with X-linked NDDs comprising intellectual disability as a core feature.

127 rphisms, short stature, developmental delay, intellectual disability as well as cardiac hypertrophy.

128 e, Dravet syndrome and infantile spasms with intellectual disability as well as relatively mild epile

129 e epilepsy, autism spectrum disorder, and/or intellectual disability, as well as other systemic manif

130 ntal symptoms including developmental delay, intellectual disability, ataxia, axial hypotonia, cerebr

131 such as developmental delay, mild-to-severe intellectual disability, ataxia, epilepsy, and behaviora

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

133 ther neurodevelopmental comorbid conditions (intellectual disabilities, autism spectrum disorders, ep

134 le to neurodevelopmental disorders including intellectual disability, autism spectrum disorder, and a

135 phenotypes that include developmental delay, intellectual disability, autism spectrum disorder, and b

136 t major neurodevelopmental disorders such as intellectual disability, autism spectrum disorder, atten

137 sk for neuropsychiatric phenotypes including intellectual disability, autism spectrum disorder, gener

138 The most common features in our cohort were intellectual disability, autism spectrum disorder, seizu

139 nked to neurodevelopmental disorders such as intellectual disability, autism, and schizophrenia.

140 ts (CNVs) have been robustly associated with intellectual disability, autism, and schizophrenia.

141 with neurodevelopmental disorders, including intellectual disability, autism, schizophrenia, and bipo

142 clinical features, including mild to severe intellectual disability, autism, severe speech and motor

143 C6 gene in patients with a syndromic form of intellectual disability [Beaulieu-Boycott-Innes syndrome

144 characterized by hypotonia, mild to moderate intellectual disability, behavioral disorders, and varia

145 n inborn error of metabolism presenting with intellectual disability, behavioral disturbances and epi

146 autistic behavior, language impairment, and intellectual disability, but feeding difficulties and ga

147 isk factors for autism spectrum disorder and intellectual disability, but it has not been reported if

148 ility of Rac1 inhibitors in the treatment of intellectual disability caused by Cc2d1a mutations in hu

149 icantly enriched in patients with autism and intellectual disability compared to healthy controls and

150 ther genes carrying rare mutations linked to intellectual disability contribute to ADHD risk through

151 , and wide mouth, developmental delay and/or intellectual disability, corpus callosum agenesis or hyp

152 Developmental delay and intellectual disability (DD and ID) are heterogeneous ph

153 ght also underlie developmental delay and/or intellectual disability (DD and/or ID) disease phenotype

154 m of clinical features including ichthyosis, intellectual disability, decreased fertility, and short

155 VTs or indices, in clinical populations with intellectual disability, degenerative brain disease, bra

156 ected individuals include variable levels of intellectual disability, delayed speech and motor milest

157 ion variants in DYRK1A exhibit microcephaly, intellectual disability, developmental delay and/or cong

158 ts are the cause of a recessive disease with intellectual disability, developmental delay, and short

159 variants in DDX6 in probands presenting with intellectual disability, developmental delay, and simila

160 er characterized with a spectrum of central (intellectual disability, developmental delay, motor impa

161 guineous families with probands that exhibit intellectual disability, developmental delay, short stat

162 neurodevelopmental condition associated with intellectual disability/developmental delay, autism spec

163 the SMARCB1 (BAF47) subunit, which cause the intellectual disability disorder Coffin-Siris syndrome (

164 that are associated with human cancer or the intellectual disability disorder Sifrim-Hitz-Weiss syndr

165 ctor eIF2, cause MEHMO syndrome, an X-linked intellectual disability disorder.

166 SWI/SNF-related intellectual disability disorders (SSRIDDs) are rare neu

167 SRPK family genes are also mutated in intellectual disability disorders, and patient-derived S

168 tal lethal motor neuron disease and X-linked intellectual disability disorders, yet its role in proce

169 with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, an

170 Those affected may have intellectual disabilities, dysmorphic facial features, a

171 fox1, an RNA binding protein associated with intellectual disability, epilepsy and autism, increases

172 lapping, syndromic forms of NDDs with severe intellectual disability, epilepsy and microcephaly.

173 often associated with microcephaly, profound intellectual disability, epilepsy, and impaired motor ab

174 eurodevelopmental disorders that manifest as intellectual disability, epilepsy, autism, or schizophre

175 In seven individuals with intellectual disability, epilepsy, ptosis, hypothyroidis

176 IFA (cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, attention-d

177 individuals with developmental delay and/or intellectual disability, facial dysmorphisms, and congen

178 al synaptic plasticity may contribute to the intellectual disability frequently seen in BBSOAS.

179 certained autism spectrum disorder (ASD) and intellectual disabilities from records of additional sup

180 The intellectual disability gene set was significantly assoc

181 in a diagnostic gene panel of 396 autosomal intellectual disability genes were tested for associatio

182 erozygous mutations have been shown to cause intellectual disability, growth deficiency, and dysmorph

183 phenotype consisting of developmental delay, intellectual disability, growth retardation, microcephal

184 ation of 15q11.2-13.1) cases associated with intellectual disability, highlight RNA-editing dysregula

185 uals with autism spectrum disorder (ASD) and intellectual disability; however, its clinical significa

186 ndrome (FXS) is characteristically displayed intellectual disability, hyperactivity, anxiety, and abn

187 lobal motor development delay, speech delay, intellectual disability, hypotonia and a history of seiz

188 ls include global developmental delay and/or intellectual disability, hypotonia, cerebellar ataxia, c

189 ndividuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties

190 senting heterozygous dominant de novo autism-intellectual disabilities (ID) causing mutations is acti

191 Disqualifying patients with intellectual disabilities (ID) from transplantation has

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

193 thylases KDM5A, KDM5B, or KDM5C are found in intellectual disability (ID) and autism spectrum disorde

194 with neurodevelopmental diseases, including intellectual disability (ID) and autism spectrum disorde

195 pe subunits have recently been implicated in intellectual disability (ID) and developmental delay (DD

196 y identified in nine individuals with severe intellectual disability (ID) and disruptive behavior.

197 merged as a collectively common etiology for intellectual disability (ID) and growth disruption.

198 oning; a number of affected individuals have intellectual disability (ID) and markedly impaired basic

199 RIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abno

200 icase DDX3X account for 1%-3% of unexplained intellectual disability (ID) cases in females and are as

201 e contribution of de novo variants in severe intellectual disability (ID) has been extensively studie

202 the most common cause of autosomal recessive intellectual disability (ID) in Arabia.

203 ene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent

204 Intellectual disability (ID) is a genetically and clinic

205 Intellectual disability (ID) is a heterogeneous clinical

206 efficacy for ADHD in children with comorbid intellectual disability (ID) or borderline intellectual

207 ree affected parents with varying degrees of intellectual disability (ID) or developmental delay (DD)

208 families with multigenerational nonsyndromic intellectual disability (ID) segregating with a recurren

209 ted the orthologs of 286 genes implicated in intellectual disability (ID) with or without comorbid au

210 r rates of global developmental delay (GDD), intellectual disability (ID), and motor delay in individ

211 ociated with autism spectrum disorder (ASD), intellectual disability (ID), and schizophrenia (SZ).

212 ficantly different in their association with intellectual disability (ID), consistent with the existe

213 Intellectual disability (ID), defined as IQ<70, occurs i

214 -q13.3 locus with a common facial phenotype, intellectual disability (ID), distinctive behavioral fea

215 e facial features with gingival enlargement, intellectual disability (ID), hypertrichosis, and hypopl

216 neurodevelopmental disorder characterized by intellectual disability (ID), motor and speech delay, au

217 Intellectual disability (ID), which presents itself duri

218 including autism spectrum disorder (ASD) and intellectual disability (ID).

219 autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are therefore cla

220 (Spain) and through services for people with intellectual disabilities in Cambridge (UK).

221 d and a plausible overlapping of obesity and intellectual disabilities in several cases.

222 tified 28 rare or novel CNVs associated with intellectual disability in 22 additional obese subjects

223 to the OGT catalytic domain lead to X-linked intellectual disability in boys, but it is not clear if

224 ty disorder (ADHD) frequently co-occurs with intellectual disability in children, and may further com

225 elp uncover novel mechanisms contributing to intellectual disability in Down syndrome.

226 Clinical trials to ameliorate intellectual disability in DS signal a new era in which

227 in the SYNGAP1 gene have been shown to cause intellectual disability in humans and have been linked t

228 Mutations in Camk2a or Camk2b cause intellectual disability in humans, and severe plasticity

229 syndrome, the most common form of inherited intellectual disability in humans.

230 osition 50 to alanine (p.D50A), resulting in intellectual disability in male patients.

231 phenotype of thrombocytopenia accompanied by intellectual disability in patients with a de novo heter

232 d significant speech delay (50% non-verbal); intellectual disability in the moderate to severe range;

233 and Rett syndrome (RTT) are associated with intellectual disability, infantile spasms and seizures.

234 Intellectual disability (intellectual quotient < 70, cSD

235 In a patient with HME, severe intellectual disability, intractable seizures and hypoch

236 tion.SIGNIFICANCE STATEMENT Mild to moderate intellectual disability is a prominent feature of Down s

237 Syndrome (FXS), a common inheritable form of intellectual disability, is known to alter neocortical c

238 ile X syndrome (FXS), an X-chromosome linked intellectual disability, is the leading monogenetic caus

239 neurodevelopmental disorder characterized by intellectual disability, lack of speech, ataxia, EEG abn

240 f severe global developmental delay, current intellectual disability, language delay, cerebellar atro

241 congenital cataracts, central hypotonia and intellectual disability (Lowe syndrome).

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

243 s in PAK1 in four unrelated individuals with intellectual disability, macrocephaly and seizures.

244 variants in PAK1 lead to moderate-to-severe intellectual disability, macrocephaly caused by the pres

245 symptoms included neurodevelopmental delay, intellectual disability, macrocephaly, and psychiatric d

246 ly recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptoda

247 ith Takenouchi-Kosaki syndrome revealed that intellectual disability, macrothrombocytopenia, camptoda

248 e role of genetic variation in both genes in intellectual disability may be through different mechani

249 B1 as a genetic etiology in individuals with intellectual disability, microcephaly, and epilepsy.

250 s have a speech delay, and most present with intellectual disability, motor delay, behavioral issues,

251 nts, who present with a clinical spectrum of intellectual disability, motor delay, speech delay, seiz

252 nge of neurological symptoms (e.g. epilepsy, intellectual disability, motor dysfunction).

253 obal developmental delay, severe to profound intellectual disability, muscle weakness and abnormal to

254 for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are

255 UR2-containing K(ATP) channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS).

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

257 had motor and language developmental delay, intellectual disability often associated with early-onse

258 th autism spectrum disorder (autism) without intellectual disability often have normal structural lan

259 n patients with autism spectrum disorder and intellectual disability or developmental disorders to sh

260 ts in NCOR1, NCOR2 or HDAC3 in patients with intellectual disability or neurodevelopmental disorders.

261 esenting with an X-linked syndrome involving intellectual disability, proportionate short stature, mi

262 We report a patient with intellectual disability, psychomotor development delay,

263 All had developmental delay or intellectual disability ranging from mild to severe.

264 This study reveals that a large set of intellectual disability-related genes contribute to ADHD

265 isk of neuropsychiatric disorders, including intellectual disability, schizophrenia, attention-defici

266 developmental disorder characterized by mild intellectual disability, seizures, behavioral abnormalit

267 xtrapolate the core phenotype, consisting of intellectual disability, short stature, microcephaly, li

268 missense variants associated with autism and intellectual disability.SIGNIFICANCE STATEMENT Here, we

269 families with a consistent phenotype of mild intellectual disability, similar facies, myopathy, and c

270 viduals presenting with microcephaly, severe intellectual disability, simplification of cerebral gyra

271 comprising global developmental delay and/or intellectual disability, subtle facial dysmorphisms, beh

272 Weaver syndrome (WS), an overgrowth/intellectual disability syndrome (OGID), is caused by pa

273 se Nicolaides-Baraitser syndrome (NCBRS), an intellectual disability syndrome associated with delayed

274 nyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome caused by a loss-of-fun

275 of patients with MEHMO syndrome, an X-linked intellectual disability syndrome, have identified severa

276 al E3 ubiquitin ligase that is mutated in an intellectual disability syndrome.

277 The clinical presentation overlaps with intellectual disability syndromes associated with other

278 istinctive from those of other autism and/or intellectual disability syndromes.

279 of the BAF complex have been associated with intellectual disability syndromes.

280 N567K) with intellectual disability that allows dissection of these

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

282 f neurological disorders, such as autism and intellectual disability, that are characterized by dendr

283 ions) in 4,789 (0.6%) children, with ASD and intellectual disability the most common combination.

284 ns and exhibiting developmental delay and/or intellectual disability; the individuals are from 17 unr

285 ted with diseases ranging from developmental intellectual disability to cancer.

286 disability (present in 84%) ranged from mild intellectual disability to severe global disability; mov

287 attention deficit hyperactivity disorder and intellectual disability, to later life, such as dementia

288 equencing on 1696 patients with epilepsy and intellectual disability using a gene panel with 480 epil

289 terized by global developmental delay and/or intellectual disability, variable axon pathfinding defec

290 rt of children with autism spectrum disorder/intellectual disability versus healthy controls revealed

291 X syndrome (FXS), a common form of inherited intellectual disabilities with a high risk for ASDs.

292 d clinically recognizable syndromic forms of intellectual disability with contrasting craniofacial dy

293 characterized by global developmental delay, intellectual disability with language deficit, autistic

294 features, especially midface hypoplasia, and intellectual disability with severe expressive language

295 fication factors (site, age at baseline, and intellectual disability), with an additional prespecifie

296 causing intermediate or severe epilepsy, or intellectual disability without epilepsy, respectively)

297 A total of 40 affected males have X-linked intellectual disability (XLID) and variable behavioral a

298 ating protein whose mutations cause X-linked intellectual disability (XLID) in humans.

299 c circuitry in Ophn1 mouse model of X-linked intellectual disability (XLID).

300 me (FXS), the most common cause of inherited intellectual disability, yet it is unknown how FMRP func