ライフサイエンスコーパス: syndromic

1 Patients were subdivided into those with syndromic (344 patients) and nonsyndromic (352 patients)

2 irst missense mutation causing isolated, non-syndromic 46,XX testicular/ovotesticular DSD in humans.

3 Non-syndromic amelogenesis imperfecta (AI) is a collection o

4 Despite etiological heterogeneity, >/=68% of syndromic and idiopathic ASD cases shared a common acety

5 that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans and provide

6 ) and connexin 30 (Cx30) have been linked to syndromic and non-syndromic hearing loss in mice and hum

7 cilia formation and is frequently mutated in syndromic and non-syndromic photoreceptor degeneration.

8 search reveals points of convergence between syndromic and nonsyndromic autism spectrum disorders, we

9 n of retinal disease differs greatly between syndromic and nonsyndromic CLN3 disease, which may be as

10 threatening condition that can occur in both syndromic and nonsyndromic congenital heart disease.

11 ry factor 6 ( IRF6) are associated with both syndromic and nonsyndromic forms of cleft lip/palate (CL

12 for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.

13 A (Group 2) that differed from the classical syndromic and nonsyndromic groups and that was defined b

14 ) and connexin 30 (Cx30) have been linked to syndromic and nonsyndromic hearing loss in mice and huma

15 and vascular tumors, including samples from syndromic and nonsyndromic subjects, and these levels co

16 skeletal organization and is associated with syndromic and psychiatric disorders in humans.

17 strate related pathophysiology of common non-syndromic and rare syndromic craniosynostoses.

18 CENT FINDINGS: Over the review period, three syndromic and six nonsyndromic deafness genes have been

19 roup of retinopathies that occur in both non-syndromic and syndromic forms, is caused by mutations in

20 RCBTB1 as a cause of autosomal-recessive non-syndromic and syndromic iRD.

21 ologic factor(s): (1) treatment-related, (2) syndromic, and (3) those due to shared etiologic exposur

22 Most used the syndromic approach for STI management.

23 enology and classification of dystonia and a syndromic approach to guide diagnosis have been proposed

24 ical aspects such as the new classification, syndromic approach, new gene discoveries and genotype-ph

25 CNV's) were overrepresented in children with syndromic ASD and if mGluR "second hit" confers addition

26 use iPSC-derived human neurons to model non-syndromic ASD and illustrate the potential of modeling g

27 us, in this small trial of children with non-syndromic ASD and language impairment, treatment with hi

28 tified mutations and medical records suggest syndromic ASD diagnoses.

29 their associated signaling network genes in syndromic ASD is unknown.

30 Syndromic ASD was more prevalent in children with mGluR

31 gether, these results implicate GLRA2 in non-syndromic ASD, unveil a novel role for GLRA2 in synaptic

32 whether mGluR network CNV'S are enriched in syndromic ASD, we examined microarrays from children wit

33 ome (Phelan-McDermid syndrome) and other non-syndromic ASDs.

34 uencing and may reveal otherwise unsuspected syndromic associations.

35 rticular forms of dystonia and this includes syndromic associations.

36 NA- and mRNA-binding proteins, including the syndromic autism protein FMRP, move in basal processes a

37 es verbal communication in children with non-syndromic autism spectrum disorder (ASD) and language im

38 Syndromic autism spectrum disorders represent a group of

39 Intellectual disability, syndromic autism, and female sex are specific risk facto

40 nes and copy number variants associated with syndromic autism, little is known to date about the etio

41 to date about the etiology of idiopathic non-syndromic autism.

42 ruption of TRPC6, a cation channel, in a non-syndromic autistic individual.

43 ing-impaired members of Family 1070 with non-syndromic autosomal dominant hearing loss (DFNA4) who ca

44 entified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated wit

45 tations contribute to both syndromic and non-syndromic AVSDs in humans and provide a model that predi

46 x individuals diagnosed with nonsyndromic or syndromic bilateral congenital cataract were selected fo

47 t frequently mutated gene underlying the non-syndromic blinding disorder Leber's congenital amaurosis

48 Recently, human syndromic brachydactylies have been described to have lo

49 After exclusion of BRCA1, BRCA2, and syndromic breast cancer genes (CDH1, PTEN, and TP53), ob

50 ndromes that may include CAKUT as a feature (syndromic CAKUT) or cause renal diseases that may manife

51 obtained from infants who met a standardized syndromic case definition and tested for Bordetella pert

52 mic disease to find genes accounting for non-syndromic cases may prove broadly relevant to understand

53 gnificant surgical management, especially in syndromic cases.

54 By diagnosing a syndromic cataract, the patient and family members are a

55 sment of all other prespecified outcomes and syndromic categories did not reveal that PsA-TT was cons

56 luding 18 prespecified adverse events and 18 syndromic categories.

57 ssociated neuropathy with one of three major syndromic categories: (1) ataxia, (2) spasticity and (3)

58 The pick-up rate in patients with syndromic CC also was high, with 63% having potential di

59 ome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-

60 Patients with syndromic CIDs had a significantly lower 5-year survival

61 However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-

62 Mutations in OFD1 cause the syndromic ciliopathies orofaciodigital syndrome-1, which

63 es originally reported to be associated with syndromic ciliopathies should also be considered in subj

64 CEP290 lead to diverse clinical findings in syndromic ciliopathies.

65 isease mechanism of reduced expression for a syndromic ciliopathy gene causing isolated retinal degen

66 e CETN2 knock-out (KO) mouse presenting with syndromic ciliopathy including dysosmia and hydrocephalu

67 We sequenced DLX4 in 155 patients with non-syndromic CL/P and CP, but observed no sequence variants

68 s been associated with increased risk of non-syndromic CL/P in humans, but the genes and pathways inv

69 Non-syndromic cleft lip and/or palate (NSCLP) is a common co

70 Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P),

71 , a locus identified in several GWAS for non-syndromic cleft lip with or without cleft palate (NS CL/

72 MP and TIMP genes as candidate genes for non-syndromic cleft lip with or without cleft palate (NSCL/P

73 Non-syndromic cleft lip with palate (NSCLP) is the most seri

74 een identified in patients with atypical and syndromic clefts.

75 gulation of immune pathways and, ultimately, syndromic clinical phenotypes.

76 f a large family with autosomal dominant non-syndromic coloboma.

77 dominant Sorsby fundus dystrophy (SFD) as a syndromic condition including late-onset pulmonary disea

78 ons (SCNAs) are of significant importance in syndromic conditions and cancer.

79 This is crucial in the diagnosis of syndromic conditions in which the information may be ess

80 be present in a nonsyndromic condition or in syndromic conditions such as Williams-Beuren syndrome.

81 eta-tubulin isotype 3, can cause isolated or syndromic congenital fibrosis of the extraocular muscles

82 henotypes of affected individuals range from syndromic coronal craniosynostosis to severe growth rest

83 s are more likely to cause nonsyndromic than syndromic CPO.

84 In humans, syndromic craniofacial malformations often accompany jaw

85 Mutations causing rare syndromic craniosynostoses in humans and engineered mous

86 ophysiology of common non-syndromic and rare syndromic craniosynostoses.

87 Non-syndromic craniosynostosis (NSC) is a frequent congenita

88 w articulations that are associated with non-syndromic craniosynostosis conditions have statistically

89 Syndromic craniosynostosis is caused by a variety of gen

90 More than 100 known mutations may cause syndromic craniosynostosis, but the majority of cases ar

91 fants <6 months of age who fulfilled a broad syndromic criteria of respiratory illness were tested fo

92 determine the genetic cause for non-GC-C non-syndromic CSD in 18 patients from 16 unrelated families

93 Syndromic CSD is caused by SPINT2 mutations.

94 We demonstrate this using syndromic data reported through the Influenzanet surveil

95 tations in Tecta cause dominant forms of non-syndromic deafness and a genotype-phenotype correlation

96 s protein complexes affected in two forms of syndromic deafness and suggests a molecular function for

97 Some mutations produce syndromic deafness associated with skin disorders, like

98 tations produce a gain of function and cause syndromic deafness associated with skin disorders, such

99 sferase (TOMT/LRTOMT) is responsible for non-syndromic deafness DFNB63.

100 disrupt its various isoforms and lead to non-syndromic deafness, blindness and deaf-blindness.

101 oss in Usher syndrome type II (USH2) and non-syndromic deafness, DFNB31.

102 a consanguineous family with congenital non-syndromic deafness, we unexpectedly identified a homozyg

103 ly reported to be implicated in USH2 and non-syndromic deafness.

104 .2 region and is responsible for most of the syndromic defects, exhibit inner ear defects and hyperac

105 ockout, which resulted in hyposulfatemia and syndromic defects.

106 ted between genes implicated in monogenic or syndromic diabetes and genes lying within genomic region

107 er-represented among both known monogenic or syndromic diabetes genes and genes within T2D-associated

108 Genetic/syndromic diagnoses included Williams syndrome (n=23), n

109 cellular, and systemic events that lead to a syndromic diagnosis for a neurodegenerative disease.

110 ltiplex, nucleic acid amplification test for syndromic diagnosis of infectious gastroenteritis.

111 We assessed the adequacy of syndromic diagnosis of STIs, compared with laboratory di

112 ally, the use of pathways identified in rare syndromic disease to find genes accounting for non-syndr

113 Patients with clinically detectable syndromic disease were excluded from evaluation.

114 -inducing GJB2 mutations lead to more severe syndromic disease.

115 affect the function of BBS3 as it relates to syndromic disease.

116 mutations in genes previously implicated in syndromic disease.

117 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain, and geni

118 POEMS is an uncommon syndromic disorder characterized by polyneuropathy, orga

119 A multiorgan syndromic disorder characterized by sideroblastic anemia

120 We found that syndromic disorders could be distinguished from those wi

121 th making and confirming a diagnosis in rare syndromic disorders have become even more possible.

122 lso been implicated in several cilia-related syndromic disorders including Meckel-Gruber syndrome, Jo

123 yndrome (OS) and two patients had severe non-syndromic early-onset epilepsy (NSEOE).

124 Dominant FBN1 mutations cause IEL or syndromic ectopia lentis (Marfan syndrome and Weill-Marc

125 ifferent MMP20 mutations in humans cause non-syndromic enamel malformations, termed amelogenesis impe

126 rials have included patients on the basis of syndromic enrollment criteria.

127 A frame-shift mutation that causes a form of syndromic epilepsy (CASPR2-1253*), results in a secreted

128 a, and coloboma disease without a recognized syndromic etiology who attended the Westmead Children's

129 ma has been consistently observed within non-syndromic families.

130 is of microcephaly in AS, a highly penetrant syndromic feature with early postnatal onset, we would g

131 with corpus callosum hypoplasia (CCH) lacked syndromic features and had consanguineous parents, sugge

132 acute aortic dissections but who do not have syndromic features have a family history of thoracic aor

133 Eight patients from 2 families with similar syndromic features were studied.

134 ilies in whom iRD segregates with or without syndromic features.

135 ian inherited CTNNB1 mutations can cause non-syndromic FEVR and that FEVR can be a part of the syndro

136 probands shows that some of them have subtle syndromic findings, while none of them meets clinical cr

137 e conclude that mutations in DYRK1A define a syndromic form of ASD and ID with neurodevelopmental def

138 an der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate.

139 We recently described a syndromic form of CSA associated with B-cell immunodefic

140 we recently described four cases of the non-syndromic form of CSD that were caused by dominant activ

141 These data support a genetic basis for a syndromic form of ectopia lentis and the role of asparty

142 h Hartsfield syndrome, a clinically distinct syndromic form of holoprosencephaly (HPE) with ectrodact

143 stability, and cause an autosomal-recessive syndromic form of ID.

144 A common syndromic form of orofacial clefting is Van der Woude sy

145 ons in SEC61A1 lead to an autosomal-dominant syndromic form of progressive chronic kidney disease.

146 Bardet-Biedl syndrome (BBS) is a syndromic form of retinal degeneration.

147 esults indicate that SGPL1 mutations cause a syndromic form of SRNS.

148 Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive

149 CNVs have been distinguished, including the syndromic forms in which the phenotypic features are rel

150 er, the genetic cause of the more common non-syndromic forms is unknown.

151 pathways has been implicated in sporadic and syndromic forms of adrenocortical carcinoma (ACC).

152 entially expressed in patients with distinct syndromic forms of ASD, fragile X syndrome, and 15q dupl

153 ed in subjects with sporadic as well as rare syndromic forms of ASD.

154 ght ongoing clinical trials in patients with syndromic forms of autism.

155 tt syndrome, and a Met-knockout model of non-syndromic forms of autism.

156 ticity (PSDSP) are a hallmark of a number of syndromic forms of autism; in the present work, we explo

157 er Woude and popliteal pterygium syndrome, 2 syndromic forms of cleft lip and palate.

158 Both genes underlie different syndromic forms of CPO.

159 mutations in genes that are also involved in syndromic forms of FSGS.

160 y of 55 multiplex families with apparent non-syndromic forms of oral clefts from four distinct popula

161 clude classic Aicardi-Goutieres syndrome and syndromic forms of systemic lupus erythematosus, includi

162 tis-determining gene, SRY Other rare complex syndromic forms of TDSD/OTDSD are associated with mutati

163 e, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of

164 pathies that occur in both non-syndromic and syndromic forms, is caused by mutations in approximately

165 henotypes ranging from isolated RP to severe syndromic forms.

166 phosphatase) biallelic mutations causing non-syndromic, generalized hypoplastic autosomal-recessive a

167 Optic neuropathies may range from non-syndromic genetic entities, to rare syndromic multisyste

168 xpression in 48% and 90% of sporadic and NF1-syndromic GISTs, respectively, and in three of eight mic

169 mutations in 17% and 50% of sporadic and NF1-syndromic GISTs, respectively, and we find loss of MAX p

170 y congenital glaucoma (PCG) is isolated, non-syndromic glaucoma that occurs in the first three years

171 Previously, a novel autosomal recessive non-syndromic hearing impairment locus DFNB44 was mapped to

172 The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high

173 Over 100 non-syndromic hearing loss genes have been identified in mou

174 -containing ferlin family protein, cause non-syndromic hearing loss in humans (DFNB9 deafness).

175 Given that most autosomal-dominant non-syndromic hearing loss in humans is caused by this mecha

176 Pjvk, both of which are associated with non-syndromic hearing loss in mammals.

177 (Cx30) have been linked to syndromic and non-syndromic hearing loss in mice and humans.

178 exposure or any other clinical features (non-syndromic hearing loss).

179 hancers in which mutations could lead to non-syndromic hearing loss, craniofacial defects or limb mal

180 s lead to early-onset autosomal dominant non-syndromic hearing loss, familial thoracic aortic aneurys

181 The syndromic heterogeneity of major depressive disorder (MD

182 the first time that AMTN mutations cause non-syndromic human AI and explores the human phenotype, com

183 the first time that AMBN mutations cause non-syndromic human AI and that mouse models with disrupted

184 n the Beethoven mouse, a murine model of non-syndromic human deafness caused by a dominant gain-of-fu

185 Studies of syndromic hydrocephalus have led to the identification o

186 f coding and conserved noncoding variants in syndromic hypertension genes on systolic blood pressure

187 We identified a proband with syndromic hypomaturation enamel defects caused by a homo

188 omic FEVR and that FEVR can be a part of the syndromic ID phenotype, further establishing the role th

189 fected by an autosomal-dominant form of mild syndromic ID with ptosis, growth retardation, and hypoto

190 ions in the last and penultimate exons cause syndromic ID, which provides additional insight into the

191 at tracking laboratory-confirmed cases than syndromic influenza-like illness (ILI) cases.

192 ry (SCI) data sets mined from the Visualized Syndromic Information and Outcomes for Neurotrauma-SCI (

193 ygous de novo CTNNB1 mutations as a cause of syndromic intellectual disability (ID) and autism spectr

194 ly conserved TREX mRNA-export complex, cause syndromic intellectual disability (ID).

195 sufficiency of SIN3A is associated with mild syndromic intellectual disability and that SIN3A can be

196 otor and sensory dysfunctions as well as non-syndromic intellectual disability in humans.

197 a surprisingly common form of sporadic, non-syndromic intellectual disability with autism in humans,

198 ve been associated with idiopathic ASDs, non-syndromic intellectual disability, and schizophrenia.

199 Besides providing additional evidence of a syndromic IPMN as a feature of McCune-Albright syndrome,

200 ted children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic tes

201 use of autosomal-recessive non-syndromic and syndromic iRD.

202 39, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy.

203 dup and p.Gln87Leu) in 2 of 110 cases of non-syndromic juvenile myelomonocytic leukaemia, a childhood

204 isorders has potential to extract meaningful syndromic knowledge from large, heterogeneous data sets

205 and anomalies in MT behavior and describe a syndromic LCA unrelated to ciliary dysfunction.

206 The canine disease is a non-syndromic LCA-ciliopathy, with normal renal structures a

207 In humans, over 150 non-syndromic loci have been identified, and there are more

208 associated domains (TADs) encompassing known syndromic loci.

209 Caucasian and 61 Hispanic patients with non-syndromic lumbar-sacral myelomeningocele.

210 se tests may be considered an alternative to syndromic management in resource-poor settings.

211 ed a novel locus for autosomal recessive non-syndromic mental retardation (NSMR) in a consanguineous

212 It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopath

213 d cytokinesis in the etiology of primary and syndromic microcephaly, as has been proposed by recent f

214 dentify mutations contributing to common non-syndromic midline (sagittal and metopic) craniosynostosi

215 from non-syndromic genetic entities, to rare syndromic multisystem diseases with optic atrophy such a

216 y, heteromeric oligomer formed by Cx43/Cx26 (syndromic mutants) shows exacerbated hemichannel activit

217 Indeed, some Cx26 syndromic mutations showed gap junction dominant negativ

218 In this study, we demonstrate that syndromic mutations, at the N terminus segment of Cx26,

219 ponent, the genetic aetiology leading to non-syndromic MVP has remained elusive.

220 rge multigenerational family segregating non-syndromic MVP underwent capture sequencing of the linked

221 h extrapancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date

222 Here, we report a syndromic neonatal encephalopathy characterized by profo

223 omes, TDA detected novel patterns across the syndromic network, uncovering interactions between SCI a

224 athogenic role of BPTF haploinsufficiency in syndromic neurodevelopmental anomalies and extend the cl

225 ange threshold of 0.5, genes associated with syndromic neurodevelopmental disorders (N=31 genes, p=3.

226 ichment of putative susceptibility genes for syndromic neurodevelopmental disorders, intellectual dis

227 anslation protein-targeting pathway, lead to syndromic neutropenia with a Shwachman-Diamond-like phen

228 the X chromosome, in 5 males with a variably syndromic, normocytic CSA.

229 Non-syndromic (NS) cleft lip with or without cleft palate (C

230 had either Kallmann syndrome or isolated or syndromic ocular and/or facial dysmotility disorders, bu

231 enes to amylogenesis imperfecta (AI) and non-syndromic oculocutaneous albinism (OCA6), respectively.

232 cohort of 145 unrelated individuals with non-syndromic oligodontia, we identified three additional mu

233 A1 modifier, which explains the emergence of syndromic 'optic atrophy plus' phenotypes in several fam

234 is, 32% with familial disease, and 9% with a syndromic or metabolic diagnosis.

235 N, N54K, M163V, and S183F) linked to various syndromic or nonsyndromic diseases to uncover the molecu

236 n of European ancestry with an isolated, non-syndromic oral cleft to frequencies in children of Europ

237 LP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most c

238 of this article is to critically discuss the syndromic overlap that exists between early behavioural

239 d these enhancer elements in a cohort of non-syndromic patients with isolated atrial and/or ventricul

240 plitudes that were significantly higher than syndromic patients, suggesting superior residual cone fu

241 been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations.

242 mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparen

243 he 5' end of whirlin are associated with the syndromic phenotype associated with USH2D, the identific

244 d Cx26 KID mutants could underlie the severe syndromic phenotype in human skin.

245 r SCRIB and the splicing factor PUF60 to the syndromic phenotype, and the combinatorial suppression o

246 ions in USH2A was associated mostly with the syndromic phenotype, whereas other combinations were pre

247 tive function to the protein that drives the syndromic phenotype.

248 sequencing studies have thus far focused on syndromic phenotypes characterized by low locus heteroge

249 d is frequently mutated in syndromic and non-syndromic photoreceptor degeneration.

250 e sequencing of two Finnish sisters with non-syndromic POI revealed a homozygous mutation in FANCM, l

251 m and should be screened in individuals with syndromic pontocereballar hypoplasia.

252 ntile) who were diagnosed later and had less syndromic presentation but additional autoimmune feature

253 g has been implicated in the pathogenesis of syndromic presentations of aortic aneurysm, including Ma

254 that high signaling contributes to multiple syndromic presentations of aortic aneurysm.

255 Syndromic primary immunodeficiencies are rare genetic di

256 Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally

257 both syndromic variants and modulated by the syndromic profile of brain degeneration.

258 members were diagnosed with early onset non-syndromic progressive retinal degeneration and the prese

259 r revealing the underlying neurobiology than syndromic psychiatric classification.

260 cases: positive intradermal tests (n = 4), a syndromic reaction during skin tests (n = 1), and one ca

261 n-containing protein superfamily, causes non-syndromic recessive deafness DFNB66 in a Tunisian family

262 essionals with interim recommendations about syndromic recognition and initial treatment based on bot

263 tions in genes traditionally associated with syndromic retinal disease are increasingly found to caus

264 ould also be considered in subjects with non-syndromic retinal dystrophy.

265 which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent finding

266 487) from a cohort of 378 unrelated arRP and syndromic RP patients.

267 equencing in an individual affected with non-syndromic RP revealed two plausibly disease-causing vari

268 sis to include FAR1 deficiency as a cause of syndromic severe intellectual disability with cataracts,

269 This is the first report of a syndromic SFD in line with the mouse model uncovering th

270 The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is

271 Certain syndromic signatures were identified: pain and temperatu

272 isintegration across the Alzheimer's disease syndromic spectrum.

273 Syndromic STI diagnosis dependent on vaginal discharge w

274 id not differ significantly between the FTLD syndromic subgroups.

275 We considered how participatory syndromic surveillance data can be used to estimate infl

276 Our findings demonstrate that participatory syndromic surveillance data can be used to gauge influen

277 We collected regional syndromic surveillance data for epidemiological weeks 23

278 12; mosquito trap results; weather data; and syndromic surveillance from area emergency departments.

279 Syndromic surveillance is the real-time collection and i

280 Influenzanet, a participatory system for the syndromic surveillance of influenza-like illness (ILI) i

281 Syndromic surveillance revealed a marked decline in gast

282 We believe that this type of syndromic surveillance system could improve the surveill

283 Our objective was to study the ability of a syndromic surveillance system to identify spatio-tempora

284 ides, our approach should be used to develop syndromic surveillance systems for other diseases and pu

285 The method has been applied successfully to syndromic surveillance systems in England providing real

286 out-of-hours, and emergency department (ED) syndromic surveillance systems were used to monitor GP c

287 s of this new vaccine program using national syndromic surveillance systems.

288 4 years age groups, respectively, across the syndromic surveillance systems.

289 ubstantial excess familial recurrence of non-syndromic Tetralogy of Fallot (TOF), implicating genetic

290 as sequenced in a discovery cohort of 93 non-syndromic TOF probands to identify rare variants.

291 kely pathogenic in 2 families with suspected syndromic tooth agenesis.

292 celerated discovery of genes associated with syndromic traits, the majority of families affected by s

293 large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL

294 sly reported severe visual phenotype seen in syndromic USH2A patients could relate to a greater exten

295 posterior cortical regions involved in both syndromic variants and modulated by the syndromic profil

296 sis inferential framework to jointly analyze syndromic, virological, and serological surveillance dat

297 Patient categorization (syndromic vs nonsyndromic) was done via blinded medical

298 Group 3 was syndromic, with laterality defects (n = 30, 10%).

299 function mutations in PAK3 contribute to non-syndromic X-linked intellectual disability (NS-XLID) by

300 Chordin-Like 1 (CHRDL1) mutations cause non-syndromic X-linked megalocornea (XMC) characterized by e