ライフサイエンスコーパス: developmental delay

1 associated with congenital heart defects and developmental delay.

2 d in a patient with exercise intolerance and developmental delay.

3 ith congenital heart disease are at risk for developmental delay.

4 esented with an autism spectrum disorder and developmental delay.

5 equivalent, history of laser treatment, and developmental delay.

6 mutated in individuals with microcephaly and developmental delay.

7 including nervous system dysfunction such as developmental delay.

8 been found in schizophrenia (SZ), autism and developmental delay.

9 strabismus in children with various forms of developmental delay.

10 he rates at which children were screened for developmental delay.

11 ken into account when managing children with developmental delay.

12 mon ophthalmologic findings in children with developmental delay.

13 axia, nystagmus, breathing abnormalities and developmental delay.

14 ment in strabismus surgery for children with developmental delay.

15 y features such as complex seizure types and developmental delay.

16 causal link between G. lamblia infection and developmental delay.

17 ze-at-age (up to 25% smaller) and a 2-3 days developmental delay.

18 seizures, severe neurological impairment and developmental delay.

19 phaly, early-onset, intractable seizures and developmental delay.

20 re apnoea attacks, learning difficulties and developmental delay.

21 ecially when the subjects have cognitive and developmental delay.

22 carbonate chemistry with reduced growth and developmental delay.

23 of developmental disorder or disabilities or developmental delay.

24 e has no major malformations and only slight developmental delay.

25 and for the evaluation of the potential for developmental delay.

26 f brain cells, displaying marked runting and developmental delay.

27 ciated with cleft palate, short stature, and developmental delay.

28 ell as abnormal proliferation accompanying a developmental delay.

29 etal dysplasia, T cell immunodeficiency, and developmental delay.

30 ude primary microcephaly and profound global developmental delay.

31 epileptic encephalopathy (EOEE) and profound developmental delay.

32 xhibiting a robust escape response following developmental delay.

33 rocephaly, spastic quadriparesis, and global developmental delay.

34 dysfunction without sideroblastic anemia or developmental delay.

35 h congenital ataxia, mental retardation, and developmental delay.

36 m experiencing unnecessary VI and associated developmental delays.

37 All patients but one had developmental delays.

38 mutation of human Naa10p is linked to severe developmental delays.

39 also improved in the subset of children with developmental delays.

40 spine malformation, facial dysmorphisms, and developmental delays.

41 tal disturbances [8-12] and a broad range of developmental delays [13-17].

42 tal delay, with 17 (65%) experiencing severe developmental delay; 14 (82%) with severe delay had beha

43 nterpreting emotional expressions in others; developmental delay (17 studies), particularly delayed l

44 sion, 9.8 years; age range, 2-32 years) with developmental delay, 20 (77%) carried a missense variant

45 toddlers with ASD features, 57 toddlers with developmental delay, 53 toddlers with other conditions [

46 have identified six individuals with severe developmental delay (6/6), refractory seizures (5/6), an

47 re infants exhibited clinically identifiable developmental delays (6 months corrected age).

48 th diabetes insipidus, spastic quadriplegia, developmental delay, agenesis of the corpus callosum, an

49 Children displayed developmental delay alongside variable neurodegeneration

50 archers in child psychiatry first documented developmental delays among children separated from famil

51 ack of the CCDC56 protein in flies induces a developmental delay and 100% lethality by arrest of larv

52 ly in which the two male children had severe developmental delay and a dramatically disturbed sleep-w

53 mutant variants, GRXS15K83/A, led to severe developmental delay and a pronounced decrease in aconita

54 everal key features of the disease including developmental delay and AD-like cognitive impairment.

55 t during early brain development can prevent developmental delay and AD-like memory impairments in a

56 regulation cause intellectual disability and developmental delay and are present in approximately 0.1

57 reful consideration of types and severity of developmental delay and attempts to measure binocular po

58 other neurodevelopmental disorders, such as developmental delay and autism spectrum disorders, where

59 gotic twin pair, individuals with idiopathic developmental delay and autism, and families affected by

60 Xq12-q13.3 duplication is a novel global developmental delay and autism-predisposing chromosomal

61 city in humans, and has been associated with developmental delay and autism.

62 SH2B3 mutations in 2 siblings affected with developmental delay and autoimmunity, one in whom B-prec

63 der characterized by movement abnormalities, developmental delay and autonomic dysfunction; an absolu

64 is characterized by refractory seizures with developmental delay and cognitive disability.

65 der Kabuki syndrome (KS) is characterized by developmental delay and congenital anomalies.

66 14 individuals with mild to severe ID and/or developmental delay and de novo truncating PPM1D mutatio

67 sculogenesis defects, resulting in a general developmental delay and death at around embryonic day 12

68 copy-number variants associated with autism, developmental delay and epilepsy are flanked by segmenta

69 of cortical development are common causes of developmental delay and epilepsy.

70 nths who have not been diagnosed with ASD or developmental delay and for whom no concerns of ASD have

71 of schizophrenia, autism spectrum disorders, developmental delay and intellectual disability risk fac

72 rare disease mainly characterized by severe developmental delay and intellectual disability, microce

73 ic-onset ataxias often present clinically as developmental delay and intellectual disability, with pr

74 me (DS), is the most common genetic cause of developmental delay and intellectual disability.

75 s early in development causes dose-dependent developmental delay and lethality in Caenorhabditis eleg

76 screen for suppressors of clozapine-induced developmental delay and lethality revealed 40 candidate

77 l 16p11.2 have been previously implicated in developmental delay and obesity.

78 testing for intellectual disability, global developmental delay and other neurodevelopmental disorde

79 of the extraocular muscles, facial weakness, developmental delay and possible peripheral neuropathy.

80 uced in larval fat bodies, animals exhibited developmental delay and reduced size in a diet-dependent

81 ain via 'leaky mutations' can result in mild developmental delay and seizures, our data also suggest

82 itutional mosaic aneuploidies, microcephaly, developmental delay and seizures, which are features of

83 Developmental delay and short stature are common clinica

84 nine individuals with infantile-onset severe developmental delay and skeletal dysplasia.

85 blings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whol

86 rimary diagnostic tool for the evaluation of developmental delay and structural malformations in chil

87 1(-/-) embryos but fails to rescue them from developmental delay and the lethality.

88 mmune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS i

89 dren who ultimately were diagnosed as having developmental delay and who were referred for timely ser

90 using the Illumina GAIIx on 39 patients with developmental delay and/or learning difficulties who wer

91 aybacks of seismic pulses showed significant developmental delays and 46% developed body abnormalitie

92 seizures, patients suffer from cognitive and developmental delays and are at high risk for sudden une

93 gmentation phenotypes' can in fact be due to developmental delays and cell specification errors.

94 defining iron deficiency, the recognition of developmental delays and cognitive abnormalities in iron

95 The presence of developmental delays and defects in Mthfd1S(+/-) embryos

96 Developmental delays and disabilities are common in chil

97 ches needed globally to ensure children with developmental delays and disabilities are fully included

98 During infancy, minor developmental delays and gastrointestinal complaints are

99 IGNIFICANCE STATEMENT Prematurity results in developmental delays and neurobehavioral disorders, whic

100 In p53 mutants, the lack of developmental delays and of damage resolution leads to a

101 ene duplication) still results in growth and developmental delays and we conclude that loss of Lsp fu

102 rder characterized by microcephaly, profound developmental delays and/or intellectual disability, cat

103 on, oculomotor apraxia, irregular breathing, developmental delay, and ataxia.

104 acterized by a dyskinetic movement disorder, developmental delay, and autism.

105 racterized by typical facies, short stature, developmental delay, and cardiac abnormalities.

106 ding mild skeletal anomalies, neurocognitive developmental delay, and cataracts.

107 results in intrauterine growth restriction, developmental delay, and congenital malformations, inclu

108 presented in childhood with growth failure, developmental delay, and constipation, which improved af

109 nd stroke-like episodes, epileptic seizures, developmental delay, and demyelinating neuropathy.

110 bsence of a self-limiting epilepsy syndrome, developmental delay, and epileptiform abnormality on ele

111 factors for autism spectrum disorder (ASD), developmental delay, and infantile seizures.

112 ent and function, resulting in microcephaly, developmental delay, and intellectual disability.

113 Most patients had developmental delay, and many had psychomotor retardatio

114 h hypotonia, intellectual disability, global developmental delay, and mildly dysmorphic facial featur

115 ed GCp proliferation, cerebellar hypoplasia, developmental delay, and motor deficits in mice.

116 of 16p11.2 is found in patients with autism, developmental delay, and obesity.

117 y infantile epileptic encephalopathy, severe developmental delay, and other features of neurological

118 g severe hormone deficiencies, hearing loss, developmental delay, and other symptoms.

119 g autism, intellectual disability, epilepsy, developmental delay, and schizophrenia.

120 al plan or recent attempt, bipolar disorder, developmental delay, and seeing a psychiatrist.

121 lopathy with or without epilepsy, and severe developmental delay, and the minimal critical deletion i

122 mood disturbance, autonomic instability, and developmental delay, and we describe evidence supporting

123 en individuals with intellectual disability, developmental delay, and/or autism spectrum disorder who

124 rm may be valid only for species with short developmental delays, and even then, only over short tim

125 and is associated with increased morbidity, developmental delays, and mortality.

126 frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, i

127 izes for strabismus surgery in children with developmental delay are still needed.

128 evidence suggests that hyperglycemia-induced developmental delays are associated with slowed cell cyc

129 th typical development, and 27 children with developmental delay as control subjects who participated

130 2 individuals with West syndrome and severe developmental delay as well as 1 individual with ID and

131 ions as a cause of West syndrome with severe developmental delay as well as of ID with childhood onse

132 nificance were eight times as likely to have developmental delay as were controls (odds ratio, 8.16;

133 targets and new standards of care to prevent developmental delay associated with cardiac abnormalitie

134 q24 microdeletion syndrome, characterized by developmental delay, autism, and sensory perceptual defi

135 phenotypic consequences, most notably global developmental delay, autism, psychosis, and anorexia ner

136 e referred for various phenotypes, including developmental delay, autism, speech delay, learning diff

137 er characterized by intellectual disability, developmental delay, behavioural uniqueness, speech impa

138 ssense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional

139 y been described in a syndrome that includes developmental delay, but not congenital heart disease.

140 rtain significance (VOUS), from among 10,619 developmental delay cases.

141 ease including dysmorphism, seizures, severe developmental delay, cataracts and early death.

142 early-onset lactic acidemia, hypotonia, and developmental delay caused by severe encephalomyopathy c

143 res while, the second patient presented with developmental delay, characteristic facial features, hir

144 individuals suffer from refractory seizures, developmental delay, cognitive disability, and elevated

145 hole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal mus

146 Moderate and late preterm children exhibited developmental delay compared with their term-born peers,

147 progressive microcephaly and profound global developmental delay, consistent with pontocerebellar hyp

148 ndrome, which include cerebellar hypoplasia, developmental delay, coordination problems, and autistic

149 Truncation of DYRK1A in patients with developmental delay (DD) and autism spectrum disorder (A

150 hically matched non-deleted individuals with developmental delay (DD) and medical comorbidities and 4

151 GZ individuals, including variable levels of developmental delay (DD) and more severe speech and lang

152 ated with autism spectrum disorders (ASD) or developmental delay (DD) in the Childhood Autism Risks f

153 iologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generatio

154 sm spectrum disorder (ASD) and many forms of developmental delay (DD) originate during fetal developm

155 nes in mothers of children with ASD (N=415), developmental delay (DD) without ASD (N=188), and genera

156 the risk of developing schizophrenia (SCZ), developmental delay (DD), autism spectrum disorders (ASD

157 y have a specific phenotype that includes ID/developmental delay (DD), characteristic facial features

158 ions in five unrelated families with autism, developmental delay (DD), seizures and ADHD.

159 e risk of autism spectrum disorder (ASD) and developmental delay (DD).

160 us at 2q21.1 in five unrelated families with developmental delay (DD)/intellectual disability (ID), A

161 shortening, microcephalic dwarfism, and mild developmental delay due to loss-of-function heterozygous

162 y to specific tissues can result in a global developmental delay (e.g. prolonged larval/pupal stages)

163 Children with mutations in this gene have developmental delay, epilepsy, intellectual disability a

164 nd resulting in a recognizable syndrome with developmental delay, facial dysmorphism, and camptodacty

165 ation p.P333L in EEF1A2 who exhibited global developmental delay, failure to thrive, dilated cardiomy

166 , characterized by failure to thrive, global developmental delay, feeding problems, hypotonia, dysmor

167 evelopmental disorder or disabilities or for developmental delay, formal, periodic developmental and

168 the relatively mild dysmorphic features and developmental delay found in individuals with Smith-Leml

169 lve unrelated individuals affected by global developmental delay (GDD), intellectual disability (ID),

170 Global developmental delay (GDD), often accompanied by intellec

171 agnosis and symptoms that are not related to developmental delays, general cognitive dysfunction, or

172 in the ATP2B3 gene in a patient with global developmental delay, generalized hypotonia and cerebella

173 of the limbs and face, hypotonia, and global developmental delay had resulted in early death in three

174 chomotor (beta = -0.05, 95% CI: -0.79, 0.68) developmental delay; however, stratified findings by sex

175 The first patient presented with developmental delay, hypospadias, inguinal hernia and dy

176 Most individuals presented with global developmental delay, hypotonia, early-onset seizures, ce

177 dosis at 3 weeks of age and developed severe developmental delay, hypotonia, microcephaly, seizures,

178 individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal ne

179 in EMC1 that segregated with a phenotype of developmental delay, hypotonia, scoliosis, and cerebella

180 5q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and

181 is characterized by intellectual disability, developmental delay, hypotonia, strabismus, cerebellar a

182 um disorder (ASD) or intellectual disability/developmental delay (ID/DD).

183 n two unrelated individuals in a cohort with developmental delay, ID, and elevated ALP, we identified

184 Systemic conditions included developmental delay in 12 (63%), neurologic deficits in

185 type embryos, and we could observe a similar developmental delay in another mutant with shorter suspe

186 their disease was remarkably uniform: global developmental delay in childhood and further regression

187 In cases of developmental delay in children (<5 years, n = 138), the

188 CNV morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy cont

189 from newborn Ddr2(slie/slie) mice revealed a developmental delay in condyle mineralization, as measur

190 of total serum bilirubin (TSB) because of a developmental delay in expression of the UGT1A1 gene, we

191 The specificity of the developmental delay in Fmr1 knockout mice indicates that

192 The developmental delay in hyperekplexia, and speech acquisi

193 Neonatal developmental delay in inhibition is associated with att

194 f MpzR98C in the endoplasmic reticulum and a developmental delay in myelination.

195 peptide mimetic, Peptide 021 (P021), rescued developmental delay in pups and AD-like hippocampus-depe

196 e, as RNAi to dpy-21 suppresses TORC2 mutant developmental delay in rict-1 males and hermaphrodites.

197 ng developmental disorder and disability and developmental delay in the CHD population, with specific

198 There is also a developmental delay in the function of thymic regulatory

199 show cognitive and behavioral dysfunctions, developmental delays in childhood and risk of developing

200 ludes cognitive impairment, autism and major developmental delays in many of the patients.

201 robands include primary microcephaly, global developmental delay including profound speech delay, and

202 that GluD1 knockout mice exhibit features of developmental delay, including impaired spine pruning an

203 Finally, we show that developmental delays induced by tissue damage are associ

204 utations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), chara

205 iations have been frequently associated with developmental delay, intellectual disability and autism

206 rized by distinctive facial features, global developmental delay, intellectual disability and cardiov

207 with amyotrophic lateral sclerosis (ALS) and developmental delay, intellectual disability and dysmorp

208 1 in 5,000 newborns and are associated with developmental delay, intellectual disability, and defect

209 three individuals who are affected by global developmental delay, intellectual disability, and expres

210 eletions, we describe a disorder of variable developmental delay, intellectual disability, and suscep

211 herited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, se

212 ommon neurodevelopmental phenotype including developmental delay, intellectual disability, autism, hy

213 studies found that patients with hypotonia, developmental delay, intellectual disability, congenital

214 development, leading to brain malformations, developmental delay, intellectual disability, epilepsy,

215 Symptoms include infantile hypotonia, global developmental delay, intellectual disability, expressive

216 iduals have overlapping phenotypes including developmental delay, intellectual disability, hearing lo

217 n families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia,

218 nically by neonatal breathing dysregulation, developmental delay, intellectual disability, hypotonia,

219 ination, microcephaly, thin corpus callosum, developmental delay, intellectual disability, seizures,

220 ient presenting with classical complaints of developmental delay, intellectual impairment, weakness i

221 dren with mutations in the ASNS gene exhibit developmental delays, intellectual disability, microceph

222 d 13 years, who manifest variable degrees of developmental delay/intellectual disability (10/10), spe

223 c variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abn

224 ehavioral phenotypes, which commonly include developmental delay/intellectual disability, epilepsy, a

225 en (57%) had a neurobehavioral disorder (eg, developmental delay/intellectual disability/mental retar

226 Patients typically have developmental delays/intellectual disabilities, hypotoni

227 e neurological phenotype, including profound developmental delay, intractable epilepsy, progressive m

228 al correction of strabismus in children with developmental delay is well tolerated and effective, alt

229 -onset epileptic encephalopathy and profound developmental delay, is located in the linker region bet

230 velopmental disorder characterized by severe developmental delay, lack of speech, and difficulty with

231 neurodevelopmental disorder associated with developmental delay, lack of speech, motor dysfunction,

232 describe a new case with failure to thrive, developmental delay, lactic acidosis and severe encephal

233 reduced energy expenditure, hyperphagia, and developmental delays later in life.

234 haracterised by distinctive facial features, developmental delay, learning difficulties, short statur

235 autism or autism spectrum disorders (ASD) or developmental delay/learning disability for genetic serv

236 ) mice (3 and 10 mo) revealed that the early developmental delay led to a dramatic and progressive lo

237 e of the gene in mediating clozapine-induced developmental delay/lethality.

238 me sequencing in six unrelated probands with developmental delay, macrocephaly, and dysmorphic featur

239 y with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease cause

240 haly; early-onset, intractable seizures; and developmental delay (MCSZ).

241 d microcephaly with early-onset seizures and developmental delay (MCSZ).

242 childhood with failure to thrive, seizures, developmental delay, mental retardation, hypotonia and s

243 with most individuals displaying significant developmental delay, microcephaly and dysmorphism.

244 alleles, additional features include global developmental delay, microcephaly, absent speech, hypoto

245 ow failure, intrauterine growth retardation, developmental delay, microcephaly, cerebellar hypoplasia

246 V has an early onset and is characterized by developmental delays, motor and cognitive deficiencies,

247 Here, we show that, despite a developmental delay, myelination at the onset and during

248 rmalities, including intellectual disability/developmental delay (n = 28), cerebral palsy-like enceph

249 after seed germination resulted in a slight developmental delay only, although leaves and cotyledons

250 -associated gene CHD8 in 3,730 children with developmental delay or ASD.

251 ndidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls.

252 KATP channel subunit genes who did not have developmental delay or epilepsy.

253 cal signs of impaired cobalamin function and developmental delay or feeding difficulties.

254 e RHD cohort have previous associations with developmental delay or neuropsychiatric diseases.

255 criteria for autism spectrum disorder, other developmental delays, or typical development at 24 month

256 y factors that can help quantify the risk of developmental delay over time.

257 Long FSs were significantly associated with developmental delay (p = 0.010) and delays and younger a

258 n individuals with autism than in those with developmental delay (p = 0.01; OR = 2.7).

259 severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, an

260 lear specificity toward autism as opposed to developmental-delay phenotypes.

261 neous EOEE phenotype characterized by severe developmental delay, poor visual contact with optic atro

262 three equally consistent features (profound developmental delay, progressive microcephaly, and failu

263 ncluding facial dysmorphologies, psychomotor developmental delays recognized since early childhood, l

264 nd SLC6A5 mutations were more likely to have developmental delay (RR1.5 P < 0.01; RR1.9 P < 0.03) tha

265 d expression of Dilp8 is consistent with the developmental delay seen in pacman null mutants.

266 ypoplasia (ONH) because they are at risk for developmental delay, seizures, or death.

267 In patients without significant developmental delay, sensitivity was 92.0% (95% CI, 85.7

268 ous Pakistani family presented with profound developmental delay, severe ID, no speech, psychomotor d

269 velopmental disorder characterized by global developmental delay, severely impaired speech, intellect

270 luded age less than or equal to 2 years old, developmental delay, severity of illness, prior coma, me

271 ive individuals with coloboma, microcephaly, developmental delay, short stature, and craniofacial, ca

272 -cell immunodeficiency, recurrent fevers and developmental delay (SIFD).

273 -cell immunodeficiency, periodic fevers, and developmental delay (SIFD).

274 em to automate the screening of children for developmental delay significantly increased the numbers

275 more severe symptoms, including substantial developmental delay, speech defects, severe hypotonia, p

276 Developmental delay, strabismus, and amblyopia were comm

277 ssense variants presented with severe global developmental delay, syndactyly of 2(nd) and 3(rd) toes,

278 ost common cause of Coffin-Siris syndrome, a developmental delay syndrome characterized by some of th

279 y dynamic hotspots associated with autism or developmental delay syndromes, using a finely tiled arra

280 h ASD, and implicated a candidate pathway in developmental delay syndromes.

281 tures the temperature-induced variability in developmental delays that characterize ectotherm life cy

282 sed somatic growth, microcephaly, hypotonia, developmental delay, thinning of the corpus callosum, an

283 mber variants (CNVs) in 29,085 children with developmental delay to those in 19,584 healthy controls,

284 ach brain lobe that are required to induce a developmental delay upon overexpression of Dilp8.

285 Scales of Infant Development-Third Edition (developmental delay was defined as less than -1 SD relat

286 Developmental delay was diagnosed in 31 (43.6%), strabis

287 The developmental delay was milder in 4 of 6 patients with s

288 No obvious developmental delay was observed in Drosha cKO embryos.

289 ectrum disorder, intellectual disability, or developmental delay, we found that approximately 1/3 of

290 The odds of developmental delay were higher in the MLPT group compar

291 ervention for sensorineural hearing loss and developmental delay, where appropriate.

292 flicted early in larval development triggers developmental delays while the effects are minimized in

293 31.2)dn translocation carrier with pervasive developmental delay who also exhibited LVOT defects, inc

294 nemia, immunodeficiency, periodic fever, and developmental delay with an uncharacterized retinal dyst

295 We reported developmental delay with or without epilepsy in 13 index

296 iseases such as familial spastic paraplegia, developmental delay with premature death, and autism spe

297 e motor disorders, but also in patients with developmental delays with axial hypotonia, and patients

298 All patients had developmental delay, with 17 (65%) experiencing severe d

299 d show that some individuals can have severe developmental delay without dystonia at least until mid-

300 th congenital heart disease at high risk for developmental delay, without known genetic abnormality,