ライフサイエンスコーパス: hypotonia

1 ntract during REM sleep, despite generalized hypotonia.

2 ere action dystonia superimposed on baseline hypotonia.

3 at present with skeletal muscle weakness and hypotonia.

4 pharyngeal insufficiency and skeletal muscle hypotonia.

5 its collapsibility during periods of muscle hypotonia.

6 facial features, musculoskeletal issues, and hypotonia.

7 sm, ADHD, ODD, sleep disorders, and muscular hypotonia.

8 encephalopathy with developmental delay and hypotonia.

9 ity, autism spectrum disorder, epilepsy, and hypotonia.

10 mia, thrombocytopenia, anhidrosis and muscle hypotonia.

11 ng option for NICU patients with unexplained hypotonia.

12 , where physical examination was notable for hypotonia.

13 features included postnatal microcephaly and hypotonia.

14 ental delay/intellectual disability (20/20), hypotonia (12/20) and delayed motor development (19/20).

15 birth (5/5), congenital cataracts (4/5), and hypotonia (4/5).

16 severe developmental delay or arrest (7/7), hypotonia (6/7), deafness (7/7) and inability to speak (

17 d features were severe language delay (71%), hypotonia (69%), epilepsy (63%), and brain abnormalities

18 thria in probands with verbal ability (6/9), hypotonia (7/9), hypertonia (6/9), and involuntary movem

19 ual disability (DD/ID, 90%), seizures (83%), hypotonia (72%) and motor symptoms (64%).

20 (100%), bilateral cataracts (89%), infantile hypotonia (74%), microcephaly (62%), gait ataxia (63%),

21 tellectual disability (93%), global or axial hypotonia (77%), ocular involvement (70%), musculoskelet

22 arting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasti

23 arge anterior fontanelle (100%), motor delay/hypotonia (92%), moderate to severe mental retardation (

24 types, including neuronal migration defects, hypotonia, a developmental delay, and neonatal lethality

25 PWS is characterized by severe hypotonia, a failure to thrive in infancy and, on emergi

26 ividuals has severe cognitive impairment and hypotonia, a recognizable facial gestalt, and variable c

27 tified a more-defined syndrome consisting of hypotonia, abnormal gait, developmental delay/intellectu

28 characterized by global developmental delay, hypotonia, abnormal magnetic resonance imaging (MRI), an

29 y (DD), intellectual disability (ID), muscle hypotonia, abnormal movements, seizures, feeding difficu

30 uscular disorder manifesting as weakness and hypotonia across a broad spectrum of severity.

31 ion show symptoms of ADHD, sleep disruption, hypotonia, aggression, ASD, and ID.

32 s included postnatal microcephaly, infantile hypotonia, aggressive behaviour, stereotypic movements,

33 elay, speech delay, intellectual disability, hypotonia and a history of seizures.

34 chromosome showed severe growth retardation, hypotonia and approximately 80% lethality before weaning

35 motor retardation, language delay, seizures, hypotonia and ataxia.

36 hree families with USP9X variants identified hypotonia and behavioral and morphological defects as co

37 inical presentation was mostly at birth with hypotonia and breathing and feeding difficulties often r

38 is of mitochondrial disease in newborns with hypotonia and cardiomyopathy.

39 with global developmental delay, generalized hypotonia and cerebellar ataxia.

40 = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent fea

41 y mental retardation, relative macrocephaly, hypotonia and constipation.

42 d learning/memory, hearing defects, neonatal hypotonia and decreased hippocampal volume.

43 te, poor feeding with an uncoordinated suck, hypotonia and decreased movement.

44 ined immunodeficiency, auto-immunity, muscle hypotonia and defects in dental enamel production and sw

45 me characterized by profound infantile-onset hypotonia and developmental delay through a dominant-neg

46 child health center for progressive truncal hypotonia and developmental delay.

47 notype dominated by profound infantile-onset hypotonia and developmental delay.

48 nifests with an array of phenotypes, such as hypotonia and difficulties in feeding during infancy and

49 obal motor and language developmental delay, hypotonia and distinctive facial characteristics, includ

50 e but high frequency of developmental delay, hypotonia and dysmorphic features, which suggests that g

51 ties including motor disabilities, seizures, hypotonia and dystonia, and self-injurious behaviour.

52 ar myopathy), which promotes severe neonatal hypotonia and early death.

53 velopmental delays that affect motor skills, hypotonia and esotropia.

54 cterized by neonatal respiratory depression, hypotonia and failure to thrive in infancy, followed by

55 velo-pharyngeal insufficiency, facial muscle hypotonia and feeding difficulties, in part due to hypop

56 resentation was mainly neonatal, with marked hypotonia and feeding difficulties.

57 severe congenital disorder characterized by hypotonia and generalized muscle weakness in newborn mal

58 GNAO1 often present with early-onset central hypotonia and global developmental delay, with or withou

59 eonatal respiratory distress, and subsequent hypotonia and global developmental delay.

60 t this approach could be used to reduce both hypotonia and hypertonia.

61 the goal of advancing knowledge of neonatal hypotonia and improving evidence-based practice.

62 ssociated with congenital cataracts, central hypotonia and intellectual disability (Lowe syndrome).

63 eakness were far more significant than their hypotonia and limb weakness and were accompanied by an u

64 of life, affected infants have tremors with hypotonia and mild contractures of the shoulders and hip

65 s characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological

66 stepwise regression during infancy, profound hypotonia and muscle weakness, severe intellectual disab

67 muscular diseases with neonatal or childhood hypotonia and muscle weakness.

68 (DEE) characterized by intractable seizures, hypotonia and neurodevelopmental delay.

69 cause syndromic intellectual disability with hypotonia and obesity, but no phenotype has been reporte

70 ncluding respiratory difficulties, weakness, hypotonia and oromotor dysfunction.

71 All 4 siblings were affected by hypotonia and prominent neck weakness in infancy, early

72 n congenital myopathy characterized by fetal hypotonia and proximal muscle weakness that is linked to

73 urodevelopmental disorder that presents with hypotonia and respiratory distress in neonates.

74 sive scoliosis, neck and spine contractures, hypotonia and respiratory insufficiency.

75 A wide spectrum of disease exists from hypotonia and severe cardiac hypertrophy in the first fe

76 -recessive condition characterized mainly by hypotonia and severe intellectual disability.

77 t was suffering from myoclonic epilepsy with hypotonia and severe motor disability.

78 es, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, a

79 urodevelopmental disorder with microcephaly, hypotonia and variable brain anomalies (NMIHBA) is an au

80 She developed progressive muscular hypotonia and ventilatory failure.

81 ses that typically present in childhood with hypotonia and weakness and are most commonly defined by

82 ases had marked congenital or neonatal-onset hypotonia and weakness associated with mild-to-moderate

83 es are hereditary disorders characterized by hypotonia and weakness from birth with variable eye and

84 steoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder.

85 evelopmental delay, intellectual disability, hypotonia, and absent speech were common features while

86 bility, motor delay, speech delay, seizures, hypotonia, and behavioral problems.

87 amilies presenting with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic var

88 bnormal breathing and eye movements, ataxia, hypotonia, and cognitive difficulty, and they display mi

89 ectual disability, behavioral abnormalities, hypotonia, and congenital anomalies.

90 ects manifested early-onset lactic acidemia, hypotonia, and developmental delay caused by severe ence

91 vus flammeus, neonatal feeding difficulties, hypotonia, and developmental disabilities.

92 al myopathy characterized by arthrogryposis, hypotonia, and dilated cardiomyopathy.

93 opmental delay, growth and feeding problems, hypotonia, and dysmorphic features, all with heterozygou

94 including profound intellectual disability, hypotonia, and early mortality.

95 rom Japan) who show intellectual disability, hypotonia, and early-onset seizures.

96 individuals with global developmental delay, hypotonia, and epilepsy, the variants p.(Ile1306Thr) and

97 als have motor developmental delay, muscular hypotonia, and eye movement disorders, as well as congen

98 degenerative disorder resulting in seizures, hypotonia, and failure to thrive, is due to inherited lo

99 orderline to severe intellectual disability, hypotonia, and gastrointestinal issues.

100 ngenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted i

101 ALR that led to cataract, progressive muscle hypotonia, and hearing loss in three children.

102 d intrauterine growth restriction, infantile hypotonia, and irritability, followed by failure to thri

103 r anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris.

104 progressive macrocephaly, substantial axial hypotonia, and limb stiffness with brisk osteotendinous

105 ore phenotype of intellectual disability and hypotonia, and many had seizures and showed brain atroph

106 cans, moderate motor delay, lethargy, severe hypotonia, and modest lactic acidosis.

107 with profound developmental retardation and hypotonia, and most experienced seizures.

108 n becomes markedly flattened, accompanied by hypotonia, and motor and sensory loss.

109 evelopmental delay, intellectual disability, hypotonia, and motor issues such as coordination problem

110 d neuronal apoptosis, a developmental delay, hypotonia, and neonatal lethality.

111 rare CDG typically presenting with seizures, hypotonia, and neurodevelopmental delay.

112 abnormality, developmental delay, infantile hypotonia, and obesity.

113 stem, behavioral alterations, short stature, hypotonia, and occasionally cleft palate and anterior se

114 atients with developmental delays with axial hypotonia, and patients with unexplained or atypical pre

115 by muscular weakness of proximal dominance, hypotonia, and respiratory insufficiency but typically n

116 ures, variable brain malformations, muscular hypotonia, and scoliosis.

117 , intellectual disability, gastric problems, hypotonia, and seizures in nine individuals from six fam

118 myopathy, corneal opacities, encephalopathy, hypotonia, and seizures in whom a monoallelic reciprocal

119 ntal delay, intellectual disability, autism, hypotonia, and seizures, all with de novo predicted dele

120 midface hypoplasia, trident hands, muscular hypotonia, and thoracolumbar kyphosis.

121 acteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male

122 t role of GNB5 in the control of heart rate, hypotonia, and vision.

123 omic ID with ptosis, growth retardation, and hypotonia, and we identified an inherited 2 bp deletion

124 ory stridor, ventilator failure, progressive hypotonia, and weakness, leading to death.

125 sability, microcephaly, facial dysmorphisms, hypotonia, and/or ataxia.

126 ures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features.

127 d by mild to severe intellectual disability, hypotonia, anxiety, autism spectrum disorder, vision pro

128 ted with seizures, microcephaly, aggression, hypotonia, as well as broad-based or stiff gait.

129 osomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellect

130 neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable

131 opmental delay, prominent language deficits, hypotonia, ataxia, hyporeflexia, and seizures.

132 be ruled out in all patients presenting with hypotonia, ataxia, nystagmus, breathing abnormalities an

133 evelopmental delay, intellectual disability, hypotonia, ataxia, nystagmus.

134 on characterized by intellectual disability, hypotonia, autism-spectrum disorder, macrocephaly, and d

135 isability and/or global developmental delay; hypotonia; autistic traits; movement disorders; growth a

136 intellectual disability with absent speech, hypotonia, brachycephaly, congenital heart defects, and

137 unrelated individuals presented with severe hypotonia, bradycardia, respiratory insufficiency, and h

138 essive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart d

139 problems (ASD, ADHD, and anxiety disorders), hypotonia, broad-based gait, facial dysmorphisms, and pe

140 Infants with hypotonia can present with a variety of potentially seve

141 is a developmental disorder characterized by hypotonia, cataracts, abnormal ossification, impaired mo

142 mental delay and/or intellectual disability, hypotonia, cerebellar ataxia, cerebellar atrophy, and fa

143 rs that feature epilepsy, tremor, nystagmus, hypotonia, cerebellar atrophy, cognitive deficits, and g

144 elay, intellectual disability, ataxia, axial hypotonia, cerebral atrophy and speech delay/apraxia/dys

145 ehavioral disorder characterized by neonatal hypotonia, childhood obesity, dysmorphic features, hypog

146 Most carriers also presented with hypotonia, cognitive impairment, and/or developmental de

147 , genetic studies of patients suffering from hypotonia-cystinuria syndrome (HCS) have revealed a dele

148 deficiencies, yet most patients have muscle hypotonia, delayed ambulation, or kyphosis, pointing to

149 erzbacher disease with congenital nystagmus, hypotonia, delayed global development and neuroimaging f

150 Irreversible, visually significant hypotonia developed in one eye.

151 re disease characterized by hypomyelination, hypotonia, developmental arrest, and epilepsy.

152 syndrome (PWS) is characterized by neonatal hypotonia, developmental delay and hyperphagia/obesity.

153 referred for progressive macrocephaly, axial hypotonia, developmental delay, and limb stiffness.

154 genome-wide studies found that patients with hypotonia, developmental delay, intellectual disability,

155 with decreased somatic growth, microcephaly, hypotonia, developmental delay, thinning of the corpus c

156 that most closely matches Joubert syndrome (hypotonia, developmental delay, typical facies, oculomot

157 ovide a potential mechanism for upper airway hypotonia during REM sleep.

158 mutation causes focal seizures, generalized hypotonia, dysarthria, congenital ataxia and, in one cas

159 lobal developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays a

160 evelopmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, a

161 is and clinical symptoms of AADC deficiency (hypotonia, dystonia, and oculogyric crisis), who were ol

162 most cases, motor and language delays, axial hypotonia, dystonia, weakness, oculogyric crises, and di

163 Other features included hypotonia early in life and delay in walking.

164 y with two siblings affected with congenital hypotonia early-onset glaucoma, and psychomotor delays.

165 s presented with global developmental delay, hypotonia, early-onset seizures, cerebellar atrophy, and

166 letion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and

167 truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe in

168 disability, autistic behavior, microcephaly, hypotonia, epilepsy and hyperventilation.

169 gical phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities.

170 evelopmental delay, intellectual disability, hypotonia, epilepsy, and structural brain anomalies, all

171 re global developmental delay, microcephaly, hypotonia, epilepsy, cortical vision impairment, pontoce

172 we suggest using the term CHEDDA (congenital hypotonia, epilepsy, developmental delay, digit abnormal

173 ormalities (including abnormal neonatal cry, hypotonia, epilepsy, polyneuropathy, cerebral gray matte

174 ith variable developmental delay, congenital hypotonia, epilepsy, short stature, skeletal abnormaliti

175 viduals with mild to severe ID, long-lasting hypotonia, epileptic susceptibility, frontal bossing, mi

176 om those seen with SMS and include infantile hypotonia, failure to thrive, mental retardation, autist

177 Here, we report a proband presenting with hypotonia, failure to thrive, nystagmus, and abnormal br

178 PTLS is characterized by hypotonia, failure to thrive, reduced body weight, intel

179 ound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episod

180 who presented at birth with lactic acidosis, hypotonia, feeding difficulties, and deafness.

181 evelopmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and fee

182 es and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalitie

183 nts with SHFYNG, like PWS, manifest neonatal hypotonia, feeding difficulties, hypogonadism, intellect

184 , motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic ga

185 lopmental disorder characterized by neonatal hypotonia, followed by hyperphagia and obesity.

186 LAMA2-CMD patients exhibit hypotonia from birth and progressive muscle loss that re

187 tional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, an

188 Hypotonia gives way in adult life to spasticity.

189 These individuals presented with hypotonia, global developmental delay, epileptic encepha

190 Symptoms include infantile hypotonia, global developmental delay, intellectual disa

191 Clinical manifestations included hypotonia, global developmental delay, severe intellectu

192 an aged appearance, craniofacial anomalies, hypotonia, global developmental delays, cryptorchidism,

193 opmental delay, microcephaly, absent speech, hypotonia, growth retardation with prenatal onset, feedi

194 cy, who was clinically characterized by mild hypotonia, growth retardation, and delayed motor milesto

195 associated with cognitive impairment, muscle hypotonia, heart defects, and other clinical anomalies.

196 ividuals exhibited shared symptoms including hypotonia, hyper-reflexia, ataxia, dystonia and signific

197 ressive kyphoscoliosis, joint hypermobility, hypotonia, hyperelastic skin, hearing loss and aortic ru

198 mic imprinting, is characterized by neonatal hypotonia, hypogonadism, small hands and feet, hyperphag

199 port a patient who presented with congenital hypotonia, hypoventilation, and cerebellar histopatholog

200 ced TBX1 levels may contribute to pharyngeal hypotonia in del22q11.2 patients.

201 ongenital centronuclear myopathy with severe hypotonia in dogs.

202 tonia but the early picture was dominated by hypotonia in five.

203 eutralization of D292 is connected to muscle hypotonia in individuals with D292V actin mutations and

204 bility in the moderate to severe range; mild hypotonia in infancy followed by spastic diplegia (mean

205 l clinical features of the condition include hypotonia in infancy, delayed psychomotor development ac

206 disorders are common causes of weakness and hypotonia in the infantile period and in childhood.

207 lopmental delay, short stature, aphasia, and hypotonia in which homozygous non-synonymous variants we

208 The first clinical manifestation was early hypotonia, in 70%; 81% developed epilepsy, manifested as

209 1 gene, associated with developmental delay, hypotonia, intellectual disability and motor stereotypie

210 The common phenotype includes hypotonia, intellectual disability, early feeding and or

211 families both show neurologic abnormalities, hypotonia, intellectual disability, failure to thrive an

212 be four probands, all of whom presented with hypotonia, intellectual disability, global developmental

213 ological disease trait (EONDT) consisting of hypotonia, intellectual disability, neurobehavioral abno

214 an anchor biosynthesis, class G (PIGG) cause hypotonia, intellectual disability, seizures, and cerebe

215 etic resonance imaging), mental retardation, hypotonia, irregular breathing pattern, and eye-movement

216 The pathogenesis of hypotonia is discussed.

217 Hypotonia is one of the clinical presentations associate

218 and by the observation of episodes of facial hypotonia, jaw drop, and ptosis.

219 y conserved and include developmental delay, hypotonia, joint contractures, behavioral abnormalities,

220 lteration of speech, language, and behavior; hypotonia; joint hypermobility; visual system defects; a

221 severe-to-profound intellectual disability, hypotonia, limb spasticity, muscle wasting, dysmorphic f

222 lay maximally involving expressive language, hypotonia, mental retardation, ataxia, and behavioral pr

223 resented at 7 days of age with poor feeding, hypotonia, methylmalonic aciduria, and elevated plasma h

224 ge and developed severe developmental delay, hypotonia, microcephaly, seizures, progressive cortical

225 d individuals have a consistent phenotype of hypotonia, mild to moderate intellectual disability, and

226 have overlapping phenotypes characterized by hypotonia, mild to moderate intellectual disability, beh

227 In addition to hypotonia, motor deficits, and language impairments, pat

228 elopmental delay or intellectual disability, hypotonia, movement disorders, and epilepsy.

229 with ID and various other features including hypotonia, movement disorders, behavior problems, corpus

230 l delay and intellectual disability (DD/ID), hypotonia, neurobehavioral problems, with variable skele

231 zed by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cereb

232 ardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or

233 ndings include other craniofacial anomalies, hypotonia, obstructive apnea, foot deformity, and congen

234 aracterized by congenital cerebellar ataxia, hypotonia, oculomotor apraxia, and mental retardation.

235 asia of the cerebellar vermis and by ataxia, hypotonia, oculomotor apraxia, and neonatal breathing dy

236 y agenesis of the cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing abnorm

237 Complications included temporary hypotonia of 2 weeks or less (2 [22%]), temporary epithe

238 al disorders such as: myoclonic epilepsy and hypotonia, often associated with visual impairment.

239 ore phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertr

240 t includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea,

241 s: D923N, which has a median age of onset of hypotonia or dystonia at 3 years, and L924P, with severe

242 uctuation, are nonspecific and mimic CP with hypotonia or dystonia.

243 ithin the first months of life, with central hypotonia or seizures.

244 developmental delay, speech defects, severe hypotonia, pathological gastro-esophageal reflux, retina

245 been effective methods to reverse pharyngeal hypotonia pharmacologically in sleeping humans.

246 nical features include congenital cataracts, hypotonia, prenatal-onset ventriculomegaly, white-matter

247 including intellectual disability, childhood hypotonia, progressive spasticity of lower limbs, and ab

248 ects presenting with early-onset generalized hypotonia, psychomotor delay, refractory epilepsy, and e

249 ther features are unexpectedly common (e.g., hypotonia, psychosis, etc.).

250 ataxia, dysarthria, gross motor regression, hypotonia, ptosis and ophthalmoplegia and had abnormal s

251 hypertrophic cardiomyopathy, profound muscle hypotonia, respiratory failure, and infantile mortality.

252 elopmental delay with pronounced generalized hypotonia, respiratory insufficiency, and variable neuro

253 y of 2(nd) and 3(rd) toes, and severe muscle hypotonia resulting in incapacity to stand without suppo

254 lation deficits, severe language impairment, hypotonia, Rett-like stereotypies, and minor facial dysm

255 ation, intellectual disability, and muscular hypotonia revealed biallelic mutations in IARS.

256 ted with a phenotype of developmental delay, hypotonia, scoliosis, and cerebellar atrophy in three fa

257 ivating Ca(2+), which could help explain the hypotonia seen in NM.

258 currently seen in these individuals included hypotonia, seizures, behavioral problems, structural CNS

259 by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requir

260 is characterized by intellectual disability, hypotonia, seizures, macrocephaly, autism spectrum disor

261 elopmental delays/intellectual disabilities, hypotonia, seizures, neuropathy, and metabolic abnormali

262 bility, behavioral and psychiatric problems, hypotonia, seizures, short stature, and other comorbidit

263 uals affected by global developmental delay, hypotonia, seizures, visual impairment and cerebellar at

264 ition known as multiple congenital anomalies-hypotonia-seizures syndrome 2.

265 m often characterized by mental retardation, hypotonia, sensorineural hearing loss, optic atrophy, an

266 WS), most notably characterized by infantile hypotonia, short stature and morbid obesity, results fro

267 nts present with global developmental delay, hypotonia, short stature, and speech/intellectual disabi

268 isorder characterized by muscle weakness and hypotonia, slow gross motor development, and decreased r

269 PBDs are characterized by leukodystrophy, hypotonia, SNHL, retinopathy, and skeletal, craniofacial

270 estations included neurodevelopmental delay, hypotonia, spastic paraplegia, brain white matter loss,

271 ncluding global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rot

272 inical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short statu

273 evelopmental delay but without macrocephaly, hypotonia, spasticity, or seizures.

274 evelopmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing l

275 mprising mild-to-severe developmental delay, hypotonia, speech impairment, and seizures.

276 l disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic feat

277 ntellectual disability, developmental delay, hypotonia, strabismus, cerebellar atrophy, and variable

278 seen in these individuals include congenital hypotonia, structural CNS malformations, ataxia, and gen

279 in infants with Angelman syndrome, including hypotonia, suckling deficits, and failure to thrive.

280 subject with micrognathia, cleft palate and hypotonia that harbored a de novo, balanced chromosomal

281 hy character, stereotypic laughter, muscular hypotonia that progressed to spastic paraplegia, microce

282 antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea

283 a syndromic form of intellectual disability, hypotonia, unstable gait, and hearing loss.

284 ioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, ga

285 disability with absent speech, epilepsy, and hypotonia was observed in all affected individuals.

286 Limb muscular hypotonia was reported in 13/25, and hypertonia in 10/25

287 Many patients also suffer from hypotonia (weak and flaccid muscles) and balance problem

288 Allan-Herndon-Dudley syndrome are marked by hypotonia, weakness, reduced muscle mass, and delay of d

289 evelopmental disorder characterized by axial hypotonia (which had been present since birth), intellec

290 and increases in nasal pressure (PN) produce hypotonia, which persists even after nasal pressure is a

291 ldhood-onset of skeletal muscle weakness and hypotonia, which results in limited motor function.

292 erized by early-infantile onset epilepsy and hypotonia with additional variable non-CNS manifestation

293 mental delay, intellectual disability, axial hypotonia with distal spasticity, dystonic movements, an

294 e epilepsy, progressive microcephaly, severe hypotonia with elevated blood creatine kinase levels, an

295 elopmental condition characterized by severe hypotonia with or without seizures.

296 cephalus, a Dandy-Walker malformation, axial hypotonia with peripheral hypertonia, visual problems, a

297 -function mutations of NALCN cause infantile hypotonia with psychomotor retardation and characteristi

298 isability, hyperkinetic movements, and axial hypotonia with variable appendicular spasticity.

299 n features were neurodevelopmental delay and hypotonia, with a high risk of epilepsy, behavioral prob

300 ely yield of diagnostic testing for neonatal hypotonia, with diagnostic rates of greater than 50% in