ライフサイエンスコーパス: developmental delay

1 more challenging situations in patients with developmental delay.

2 erized by intractable epileptic seizures and developmental delay.

3 in the brain provide an explanation for the developmental delay.

4 or anti-oxidant supplementation reversed the developmental delay.

5 LPM) and is therefore unlikely to cause this developmental delay.

6 ed by profound infantile-onset hypotonia and developmental delay.

7 rocephaly, spastic quadriparesis, and global developmental delay.

8 seizures, severe neurological impairment and developmental delay.

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

10 ell as abnormal proliferation accompanying a developmental delay.

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

12 ude primary microcephaly and profound global developmental delay.

13 epileptic encephalopathy (EOEE) and profound developmental delay.

14 xhibiting a robust escape response following developmental delay.

15 dysfunction without sideroblastic anemia or developmental delay.

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

17 associated with congenital heart defects and developmental delay.

18 y with intractable focal seizures and severe developmental delay.

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

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

21 n littermate controls, indicative of general developmental delay.

22 stature, seizures, cognitive impairment, and developmental delay.

23 center for progressive truncal hypotonia and developmental delay.

24 medical record for evidence of epilepsy and developmental delay.

25 individuals presented with microcephaly and developmental delay.

26 amma, and IL-12p70 relative to children with developmental delay.

27 m experiencing unnecessary VI and associated developmental delays.

28 All patients but one had developmental delays.

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

30 spine malformation, facial dysmorphisms, and developmental delays.

31 n the genetic screen of a patient exhibiting developmental delays.

32 0) prescreening probability and 31% (55/177) developmental delays.

33 ants in KMT2E presented with the most severe developmental delays.

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

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

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

37 9%, P = .031), and parental report of "child developmental delay" (31.5% vs 11.3%, P = .019).

38 cardiac abnormalities or cardiomyopathy (5), developmental delay (4), scoliosis (3), epilepsy (3) and

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

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

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

42 uals include white matter alterations (9/9), developmental delay (9/9), impaired language (9/9), cogn

43 In multivariable risk factor analysis, developmental delay (adjusted HR 18.92, 95% CI 2.23-160.

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

45 Developmental delay allows for AMP reconstitution, ensur

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

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

48 all individuals in this cohort present with developmental delay and a neuro-behavioral phenotype, in

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

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

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

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

53 neurodevelopmental phenotypes that includes developmental delay and autism spectrum disorder, with a

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

55 tion (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate

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

57 nts (CNVs) are strongly associated with both developmental delay and cancer, but the type of disease

58 14 individuals with mild to severe ID and/or developmental delay and de novo truncating PPM1D mutatio

59 All patients had mild developmental delay and developed levodopa-responsive pa

60 major myelin protein, resulting in profound developmental delay and early lethality.

61 s m3C formation in human patients exhibiting developmental delay and early-onset epileptic encephalop

62 (c.1929C>A [p.His643Gln]) and presented with developmental delay and epilepsy in childhood.

63 d egg-cylinder formation, followed by severe developmental delay and failure to initiate gastrulation

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

65 nces in levels of immune markers between the developmental delay and GP groups.

66 tional phenotypes including growth deficits, developmental delay and hearing loss.

67 PWS) is characterized by neonatal hypotonia, developmental delay and hyperphagia/obesity.

68 resenting with epileptic encephalopathy with developmental delay and hypotonia.

69 in GLS encoding GLS associated with profound developmental delay and infantile cataract.

70 Developmental delay and intellectual disability (DD and

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

72 ysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual disability, and cer

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

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 year-old left-handed woman with a history of developmental delay and medical refractory seizures sinc

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

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

80 rodevelopmental features that include global developmental delay and seizures.

81 the general population and was increased by developmental delay and severe malnutrition.

82 Developmental delay and short stature are common clinica

83 in 2 brothers presenting an uncharacterized developmental delay and short stature.

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

85 The patients show limited IQ with developmental delay and skewed X-inactivation.

86 1(-/-) embryos but fails to rescue them from developmental delay and the lethality.

87 imal is sufficient to rescue both the larval developmental delay and the pupal lethality caused by lo

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

89 hibit microcephaly, intellectual disability, developmental delay and/or congenital anomalies of the k

90 RNA helicase superfamily might also underlie developmental delay and/or intellectual disability (DD a

91 l fissures, broad nasal tip, and wide mouth, developmental delay and/or intellectual disability, corp

92 e variants in SPOP in seven individuals with developmental delay and/or intellectual disability, faci

93 res found in most individuals include global developmental delay and/or intellectual disability, hypo

94 ith a core set of symptoms comprising global developmental delay and/or intellectual disability, subt

95 velopmental disorder characterized by global developmental delay and/or intellectual disability, vari

96 ous types of SOX6 alterations and exhibiting developmental delay and/or intellectual disability; the

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

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

99 pathies, with overlapping phenotypes such as developmental delays and cognitive and memory deficits.

100 screening of a large cohort of subjects with developmental delays and congenital anomalies.

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

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

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

104 -phenotype relationships ranging from severe developmental delays and uncoordinated movement to subtl

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

106 All individuals had developmental delays and/or intellectual disability and

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

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

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

110 complex syndromes that include microcephaly, developmental delay, and brittle hair and nails.

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

112 exhibit early onset drug-resistant seizures, developmental delay, and cognitive impairment.

113 tic encephalopathy with refractory seizures, developmental delay, and elevated risk of sudden death.

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

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

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

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

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

119 essive disease with intellectual disability, developmental delay, and short stature, and that axonal

120 nds presenting with intellectual disability, developmental delay, and similar dysmorphic features inc

121 rized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pa

122 onia, or bacteremia (including hearing loss, developmental delay, and speech delay, but excluding dea

123 ency in a patient with immune dysregulation, developmental delay, and stroke.

124 iduals began with normal development or mild developmental delay, and the onset of seizures occurred

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

126 and is characterized by brain malformation, developmental delays, and epilepsy.

127 ficits in which are not explained by general developmental delays, and point to the pivotal role of e

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

129 hereas forced autophagy induction results in developmental delay/arrest in well-fed animals.

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

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

132 s with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplas

133 o identify preterm born children at risk for developmental delay at age 24 months.

134 P1 is a major genetic risk factor for global developmental delay, autism spectrum disorder, and epile

135 P1 is a major genetic risk factor for global developmental delay, autism spectrum disorder, and epile

136 tion associated with intellectual disability/developmental delay, autism spectrum disorder, and multi

137 ection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cel

138 5.6) to 2.8 (95% CI: 1.3, 5.7)) of cognitive developmental delay (Bayley-III score <1 SD) compared wi

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

140 previously reported, including poor growth, developmental delay, brain dysmyelination, sensorineural

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

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

143 HIV infection is known to cause developmental delay, but the effects of HIV exposure wit

144 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1.

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

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

147 of rare disorders commonly manifesting with developmental delay, cerebral palsy or seizures.

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

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

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

151 ty and morbidity, immunological changes, and developmental delays compared to their HIV-unexposed (HU

152 and progressive muscle loss that results in developmental delay, confinement to a wheelchair, respir

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

154 ls presented with a history of severe global developmental delay, current intellectual disability, la

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

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

157 g degrees of intellectual disability (ID) or developmental delay (DD) and short stature.

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

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

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

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

162 plicated in intellectual disability (ID) and developmental delay (DD).

163 term CHEDDA (congenital hypotonia, epilepsy, developmental delay, digit abnormalities) to classify th

164 is disease include congenital heart defects, developmental delays, distinctive facial abnormalities,

165 contrast, the risk for developing autism or developmental delay does not significantly change across

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

167 sitivity, nonspecific otitis media, and mild developmental delay during the first decade of life with

168 Affected individuals have severe developmental delay, dysmorphism, and brain abnormalitie

169 Group 1 consists of 14 patients with severe developmental delay, endo- and exocrine dysfunction, imp

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

171 Subjects present with a range of global developmental delay, epileptic encephalopathy and primar

172 individuals presented with hypotonia, global developmental delay, epileptic encephalopathy, and dysmo

173 -allelic mutations and presented with global developmental delay, epileptic encephalopathy, and spast

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

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

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

177 As these patients experience developmental delays for years after extracorporeal memb

178 ygous MPP5 de novo variants (DNV) and global developmental delay (GDD) and compared their phenotypes

179 resented with dysmorphic features and global developmental delay (GDD) with language and motor skills

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

181 found a trend toward higher rates of global developmental delay (GDD), intellectual disability (ID),

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

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

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

185 individuals are highly conserved and include developmental delay, hypotonia, joint contractures, beha

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

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

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

189 ological phenotype comprising mild-to-severe developmental delay, hypotonia, speech impairment, and s

190 5q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and

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

192 res of intellectual disability and/or global developmental delay; hypotonia; autistic traits; movemen

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

194 in hyperglycemia, depleted fat reserves, and developmental delays, implicating IMD in metabolic regul

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

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

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

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

199 neonatal neuroprotection and for mitigating developmental delays in this patient population.

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

201 ed as a cause of intellectual disability and developmental delay, indicating the relevance of this pa

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

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

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

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

206 typical facial dysmorphisms, short stature, developmental delay, intellectual disability as well as

207 s with KCNN2 variants had motor and language developmental delay, intellectual disability often assoc

208 y exhibit a syndrome characterized by global developmental delay, intellectual disability with langua

209 tch receptor and that a few individuals with developmental delay, intellectual disability, and brain

210 1 in 5,000 newborns and are associated with developmental delay, intellectual disability, and defect

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

212 missense variants in four children who share developmental delay, intellectual disability, and mild f

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

214 logical and developmental symptoms including developmental delay, intellectual disability, ataxia, ax

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

216 d neurodevelopmental phenotypes that include developmental delay, intellectual disability, autism spe

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

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

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

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

221 ented with a similar phenotype consisting of developmental delay, intellectual disability, growth ret

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

223 ons in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia,

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

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

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

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

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

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

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

231 Patients typically have developmental delays/intellectual disabilities, hypotoni

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

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

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

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

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

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

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

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

240 1 in a 6-year-old patient with severe global developmental delay, microcephaly, hypotonia, epilepsy,

241 hat showed features of early-onset seizures, developmental delay, microcephaly, sensorineural deafnes

242 sociated with clinical presentations such as developmental delay, mild-to-severe intellectual disabil

243 evere early epileptic encephalopathy, global developmental delay, motor dysfunction, autistic feature

244 pectrum of central (intellectual disability, developmental delay, motor impairment, speech difficulti

245 pectrum of intractable seizure types, severe developmental delay, movement disorders, and elevated ri

246 In humans, DMD has early onset, causes developmental delays, muscle necrosis, loss of ambulatio

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

248 f children with ASD (n = 370), children with developmental delay (n = 140), and general population (G

249 reen conducted for mutations that rescue the developmental delay of hif-1 mutants under iron limitati

250 y function upstream of GhCYC3 and affect the developmental delay of marginal ray primordia during the

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

252 who all showed the same phenotypes of severe developmental delay or arrest (7/7), hypotonia (6/7), de

253 All had developmental delay or intellectual disability ranging f

254 ave cerebral malformations, seizures, global developmental delay or intellectual disability, and seve

255 nancy, ZIKV has been linked to microcephaly, developmental delays, or other congenital disorders coll

256 in-of-function CLCN7 variant associated with developmental delay, organomegaly, and hypopigmentation

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

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

259 evelopmental disorder associated with severe developmental delay, progressive microcephaly with brach

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

261 ts in genes associated with human autism and developmental delay, providing a framework for developin

262 required in glia, and loss of ACOX1 leads to developmental delay, pupal death, reduced lifespan, impa

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

264 NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and t

265 odevelopmental disorder consisting of global developmental delay, severe to profound intellectual dis

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

267 obands that exhibit intellectual disability, developmental delay, short stature, aphasia, and hypoton

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

269 ompounds, while it is clinically notable for developmental delays, spastic diplegia, psychomotor func

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

271 Developmental delay, strabismus, and amblyopia were comm

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

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

274 thrive, short stature, feeding difficulties, developmental delays that affect motor skills, hypotonia

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

276 ed by profound infantile-onset hypotonia and developmental delay through a dominant-negative effect o

277 He was also noted to have some mild developmental delay throughout his 1st year of life and

278 closely matches Joubert syndrome (hypotonia, developmental delay, typical facies, oculomotor apraxia,

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

280 In contrast, in patients with developmental delay, variants occur remarkably uniformly

281 evelopmental disorder associated with severe developmental delay, visceral and cardiac malformations,

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

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

284 with truncating variants, but the degree of developmental delay was greater.

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

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

287 ntile epileptic encephalopathy, and profound developmental delay were found to carry heterozygous var

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

289 ions of HIV-exposed uninfected children with developmental delay were higher than those of HIV-unexpo

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

291 31.2)dn translocation carrier with pervasive developmental delay who also exhibited LVOT defects, inc

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

293 e define a set of core features: early-onset developmental delay with delayed motor milestones and si

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

295 s, the affected individuals displayed severe developmental delay with pronounced generalized hypotoni

296 variants clinically characterized by global developmental delay with regression, spastic para- or te

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

298 All patients exhibited global developmental delay within the first 2 years of life.

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,