ライフサイエンスコーパス: autosomal recessive

1 relatives confirmed that WDR1 deficiency is autosomal recessive.

2 Inheritance is either autosomal dominant or autosomal recessive.

3 particular genes is known to be exclusively autosomal recessive.

4 ablished in neurodevelopmental disorders (46 autosomal recessive, 2 X-linked, and 2 de novo) or in 7

5 We show here that Whirlin/Deafness autosomal recessive 31 (DFNB31), a PDZ-scaffold protein

6 The autosomal-recessive AARS mutations identified in the ind

7 dney failure in a Col4a3(-/-) mouse model of autosomal recessive Alport syndrome and increased protei

8 using non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta (AI) in indi

9 bout 3% of hitherto genetically unclassified autosomal recessive and sporadic cases; and (ii) hypomye

10 stinctive facial features and for which both autosomal-recessive and autosomal-dominant inheritance p

11 ests include testing for autosomal dominant, autosomal recessive, and gene-dosage interactions.

12 g spatacsin, cause the most frequent form of autosomal recessive (AR) complex hereditary spastic para

13 jor challenge in current exome sequencing in autosomal recessive (AR) families is the lack of an effe

14 Autosomal-recessive (AR) IL-17RA and ACT1 deficiencies a

15 of primary isolated dystonia inherited in an autosomal-recessive (AR) manner, often lumped together a

16 mozygous mutations cause spectrin associated autosomal recessive ataxia type-1 (SPARCA1), an infantil

17 PSCs can be generated from patients with the autosomal recessive ataxia, AOA2, differentiated into ne

18 We investigated 28 unrelated families with autosomal recessive axonal Charcot-Marie-Tooth disease d

19 1/KIAA1840 gene in affected individuals with autosomal recessive axonal Charcot-Marie-Tooth disease.

20 ide spectrum of clinical features, including autosomal recessive axonal Charcot-Marie-Tooth disease.

21 Paraneoplastic retinopathy and autosomal recessive bestrophinopathy closely resemble AE

22 Factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder treated by infusio

23 Kindler syndrome (KS) is an autosomal recessive blistering skin disease resulting fr

24 cause pycnodysostosis (OMIM 265800), a rare autosomal recessive bone dysplasia.

25 LP or P mutation in 39 genes associated with autosomal-recessive cancer susceptibility.

26 Autosomal recessive CARD9 deficiency has recently been r

27 POPDC1 as a disease gene causing a very rare autosomal recessive cardiac arrhythmia and LGMD, expandi

28 A subset of patients with AC have the autosomal recessive cardiocutaneous disorder Naxos disea

29 n recently has been associated with a lethal autosomal recessive cardiomyopathy in Poll Hereford calv

30 ular tachycardia type 2 (CPVT2) results from autosomal recessive CASQ2 mutations, causing abnormal Ca

31 feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ).

32 Thus, autosomal recessive CD70 deficiency is a novel cause of

33 a mutation has recently been found to cause autosomal recessive cerebellar ataxia and intellectual d

34 ge Lebanese family previously described with autosomal recessive cerebellar ataxia and short stature

35 rithm was assessed versus a blinded panel of autosomal recessive cerebellar ataxia experts.

36 orithm, and a patient's total score for each autosomal recessive cerebellar ataxia is calculated, pro

37 bellar ataxia Type 5 and spectrin-associated autosomal recessive cerebellar ataxia Type 1 pathology l

38 ellar ataxia Type 5, and spectrin-associated autosomal recessive cerebellar ataxia Type 1, but molecu

39 ataxia type-5 (SCA5) and spectrin-associated autosomal recessive cerebellar ataxia type-1 (SPARCA1) a

40 ficity of each feature were defined for each autosomal recessive cerebellar ataxia, and corresponding

41 a oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia.

42 t of 834 patients with molecularly confirmed autosomal recessive cerebellar ataxia.

43 d following a review of the literature on 67 autosomal recessive cerebellar ataxias and personal clin

44 Differential diagnosis of autosomal recessive cerebellar ataxias can be challengin

45 cerebellar ataxia type 12, tremors caused by autosomal recessive cerebellar ataxias, myorhythmia, iso

46 icting the underlying molecular diagnoses of autosomal recessive cerebellar ataxias, thereby guiding

47 due to mutations in WDR45, SNX14-associated autosomal-recessive cerebellar ataxia and intellectual d

48 Hereditary autosomal-recessive cerebellar ataxias are a genetically

49 A novel autosomal recessive cerebro-renal syndrome was identifie

50 ed for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/

51 An additional locus for autosomal recessive Charcot-Marie-Tooth disease type 2H

52 ociates missense mutations in NSMCE3 with an autosomal recessive chromosome breakage syndrome that le

53 h the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy.

54 sive retinal dystrophy are major features of autosomal recessive Cohen syndrome, which is caused by m

55 ing endoribonuclease (RMRP) give rise to the autosomal recessive condition cartilage-hair hypoplasia

56 Lysosomal acid lipase deficiency is a rare, autosomal recessive condition caused by mutations in the

57 MMS is an autosomal recessive condition described thus far in only

58 e Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by cr

59 pastatin (CAST) are the genetic causes of an autosomal-recessive condition characterized by generaliz

60 Grange syndrome is an autosomal-recessive condition characterized by severe an

61 en reported in three families affected by an autosomal-recessive condition characterized mainly by hy

62 al recessive retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) however,

63 dominant retinitis pigmentosa (RP), two with autosomal recessive cone-rod dystrophy (CORD), and two w

64 Autosomal recessive congenital ichthyosis (ARCI) is a he

65 PNPLA1 have been identified as causative for autosomal recessive congenital ichthyosis in humans and

66 Autosomal recessive congenital ichthyosis is a heterogen

67 be associated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, and harlequin

68 be associated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, and harlequin

69 pholipase domain-containing 1 (PNPLA1) cause autosomal recessive congenital ichthyosis, but the mecha

70 factor beta binding protein 4 (LTBP4) cause autosomal recessive cutis laxa type 1C.

71 y syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3).

72 type 1.3 (CaV1.3) and is defective in human autosomal-recessive deafness 93 (DFNB93).

73 Autosomal recessive deficiency of the CARD9 (caspase rec

74 rent phenotypic consequences for a recurrent autosomal-recessive deletion mutation in revealing the g

75 CODAS syndrome is a distinct, autosomal-recessive, developmental disorder associated w

76 Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by deficiency in fuma

77 Cystic fibrosis is an autosomal recessive disease caused by mutations in the C

78 nesco-Sjogren syndrome (MSS), a debilitating autosomal recessive disease characterized by multisystem

79 Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate acc

80 rointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that r

81 An autosomal recessive disease was found in 62.9% of patien

82 Urofacial syndrome (UFS) is an autosomal recessive disease with severe dysfunctional ur

83 Discovery of most autosomal recessive disease-associated genes has involve

84 adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an asso

85 had X-linked disease, and 67.2% (n = 45) had autosomal recessive disease.

86 cogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucos

87 Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combina

88 Mutations in AIRE cause a rare autosomal-recessive disease, autoimmune polyendocrine sy

89 Cystic fibrosis (CF) is an autosomal recessive disorder affecting the cystic fibros

90 nd HMDM of patients with Tangier disease, an autosomal recessive disorder because of mutations in ATP

91 Farber disease is a rare autosomal recessive disorder caused by acid ceramidase d

92 Our study identifies an autosomal recessive disorder caused by an MCM8 mutation

93 Sandhoff disease is an autosomal recessive disorder caused by beta-hexosaminida

94 n storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the

95 are associated with Gaucher disease (GD), an autosomal recessive disorder caused by functional defici

96 sporter Deficiency Syndrome (DTDS) is a rare autosomal recessive disorder caused by loss-of-function

97 APECED is an autosomal recessive disorder caused by mutations in the

98 Infantile-onset Pompe disease is an autosomal recessive disorder caused by the complete loss

99 Here we describe an autosomal recessive disorder characterized by cerebellar

100 Achromatopsia is an autosomal recessive disorder characterized by cone photo

101 LCT result in Peters plus syndrome (PPS), an autosomal recessive disorder characterized by eye and ot

102 ity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by insensitiv

103 Wolfram syndrome is an autosomal recessive disorder characterized by neurodegen

104 Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloder

105 Ataxia telangiectasia (A-T), a rare autosomal recessive disorder characterized by progressiv

106 Cystic fibrosis (CF) is an autosomal recessive disorder characterized by the accumu

107 Abetalipoproteinemia is a rare autosomal recessive disorder characterized by the inabil

108 Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-as

109 Cystic fibrosis is the most common lethal autosomal recessive disorder in the Caucasian population

110 This is an autosomal recessive disorder mapped to chromosome 1q42.1

111 zyme deficiency are the genetic cause of the autosomal recessive disorder phenylketonuria.

112 Cockayne syndrome is an autosomal recessive disorder principally characterized b

113 with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder that causes childhood visua

114 Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically an

115 Wilson disease (WD) is an autosomal recessive disorder that is caused by the toxic

116 gene (HSD11B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid

117 Cohen Syndrome (CS) is a rare autosomal recessive disorder, with defective glycosylati

118 Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinct

119 Spinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by severe, of

120 We describe a clinically recognizable autosomal-recessive disorder in four affected siblings f

121 Here we describe an autosomal-recessive disorder in six individuals from the

122 mith-Lemli-Opitz syndrome (SLOS) is a common autosomal-recessive disorder that results from mutations

123 Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme defici

124 Zellweger spectrum disorders (ZSDs) are autosomal-recessive disorders that are caused by defects

125 utant allele might also play a role in other autosomal-recessive disorders, in which only one heteroz

126 e H(+)-ATPase B1 subunit gene ATP6V1B1 cause autosomal-recessive distal renal tubular acidosis (dRTA)

127 Conclusions Autosomal recessive DOCK2 deficiency is a new mendelian

128 tional EB, 34.3% with simplex EB, 34.3% with autosomal recessive dystrophic EB, and 22.9% autosomal d

129 s work is to identify the molecular cause of autosomal recessive early onset retinal degeneration in

130 an E3 ubiquitin ligase, are associated with autosomal recessive early-onset Parkinson's disease (PD)

131 an kinase PINK1 (hPINK1) are associated with autosomal recessive early-onset Parkinson's disease (PD)

132 Parkin is associated with autosomal recessive early-onset PD, and controls the tra

133 The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disea

134 Autosomal-recessive early-onset parkinsonism is clinical

135 hat loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a dist

136 esis for the pigmentary changes in this rare autosomal recessive EBS subtype.

137 syndrome is an early childhood onset, severe autosomal recessive encephalopathy characterized by extr

138 Aicardi-Goutieres syndrome (AGS) is an autosomal-recessive encephalopathy in children that is c

139 phenotypic spectrum of COL17A1 disease from autosomal recessive epidermolysis bullosa to autosomal d

140 r data support ARV1 deficiency as a cause of autosomal recessive epileptic encephalopathy.

141 Autosomal recessive erythropoietic protoporphyria (EPP)

142 AN12 were involved in autosomal dominant and autosomal recessive families and further validates the i

143 gryposis with anterior horn cell disease are autosomal recessive fetal motor neuron diseases that are

144 ozygous mutations in PIEZO1, resulting in an autosomal recessive form of GLD with a high incidence of

145 The autosomal recessive form of GPS is linked to loss of fun

146 cator of cytokinesis 8 (DOCK8) gene cause an autosomal recessive form of hyper-IgE syndrome, characte

147 ning protein 14), that cause a nonsyndromic, autosomal recessive form of intellectual disability.

148 The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or co

149 mutations in SERPINB8 in association with an autosomal-recessive form of exfoliative ichthyosis.

150 Wolfram syndrome is a rare autosomal recessive genetic disease characterized by ins

151 Cystic fibrosis is a common life-limiting autosomal recessive genetic disorder, with highest preva

152 Poikiloderma with Neutropenia (PN) is an autosomal recessive genodermatosis characterized by earl

153 The most common form of autosomal recessive hereditary spastic paraplegia is cau

154 /SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with t

155 /HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with t

156 enital tufting enteropathy (CTE) is a severe autosomal recessive human diarrheal disorder with charac

157 Here we describe an autosomal recessive human disease in two unrelated famil

158 The autosomal recessive hyper-IgE syndrome (HIES) caused by

159 on disease characterized by a non-BS, non-GS autosomal recessive hypokalemic-alkalotic salt-losing ph

160 ification of pathogenic mutations that cause autosomal recessive ID (ARID) has lagged behind, predomi

161 Molybdenum cofactor deficiency (MoCD) is an autosomal recessive inborn error of metabolism character

162 E6H gene was identified as a novel locus for autosomal recessive (incomplete) color blindness.

163 of other populations, mainly a high rate of autosomal recessive inheritance and a unique composition

164 isease causing variants following a model of autosomal recessive inheritance led to the identificatio

165 nded multiplex pedigrees displaying apparent autosomal recessive inheritance of an uncharacterized sk

166 ally diverse macular dystrophy caused by the autosomal recessive inheritance of mutations in ABCA4.

167 Autosomal recessive inheritance of mutations in SepSecS-

168 se with both diseases, as well as the common autosomal recessive inheritance pattern of thin corpus c

169 fied in 6 families that were consistent with autosomal recessive inheritance with a single mutation i

170 Assuming autosomal recessive inheritance, we identify 27 genes th

171 in this Iranian cohort were consistent with autosomal recessive inheritance.

172 s in one of these three genes, indicating an autosomal-recessive inheritance pattern in the majority

173 ophila, Homolog of, 2 (CRB2) consistent with autosomal-recessive inheritance.

174 Three quarters of cases show autosomal-recessive inheritance.

175 Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the

176 Autosomal recessive inherited neurodevelopmental disorde

177 8Pro, in patients affected with nonsyndromic autosomal recessive intellectual disability from two unr

178 identified as the cause of certain forms of autosomal-recessive intellectual disability (ID).

179 o cellular movements) that are causative for autosomal-recessive intraosseous vascular malformation (

180 opathy, and account for approximately 40% of autosomal recessive juvenile amyotrophic lateral scleros

181 The PARK2 gene is mutated in 50% of autosomal recessive juvenile parkinsonism (ARJP) cases.

182 nase PINK1 (encoded by PARK6) are mutated in autosomal-recessive juvenile Parkinsonism (AR-JP) and wo

183 Autosomal-recessive juvenile Parkinsonism (AR-JP) is cau

184 ate that p.Gly131Glu mutant VPS33B causes an autosomal recessive keratoderma-ichthyosis-deafness synd

185 g protein-like 1 (AIPL1) are associated with autosomal recessive Leber congenital amaurosis (LCA), th

186 Niemann-Pick C1 (NPC) disease, an autosomal recessive lipid trafficking disorder caused by

187 henotype observed in the most common form of autosomal recessive lipodystrophy, Berardinelli-Seip con

188 ncy is a combined immunodeficiency caused by autosomal recessive loss-of-function mutations in DOCK8.

189 DTDS is a rare condition that is caused by autosomal recessive loss-of-function mutations in the do

190 he direct cause of type IV mucolipidosis, an autosomal recessive lysosomal storage disease.

191 dosis IIIB (MPS IIIB) is a neurodegenerative autosomal recessive lysosomal storage disorder in which

192 ntify the genetic defects in 2 families with autosomal recessive macular dystrophy with central cone

193 identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused

194 e and early-onset motor neuron disease in an autosomal recessive manner, dying by postnatal day 5-6.

195 Patients with this autosomal recessive Mendelian disorder display constitut

196 coding 11beta-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex s

197 stic fibrosis, one of the more common lethal autosomal recessive Mendelian disorders, is presented he

198 wave in a subset of mice, consistent with an autosomal recessive Mendelian inheritance pattern.

199 ntified TUBGCP4 variants in individuals with autosomal-recessive microcephaly and chorioretinopathy.

200 splice donor site mutation in SNX14, with an autosomal recessive mode of inheritance suspected.

201 ained from families 50, 58, 99 and 100 under autosomal recessive mode.

202 he general population are consistent with an autosomal-recessive mode of inheritance.

203 iants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we sugg

204 ssues from patients and murine models of the autosomal recessive multisystem disorder Arthrogryposis,

205 Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized b

206 GNE myopathy is an autosomal recessive muscle disease caused by biallelic m

207 Exome sequencing identified an autosomal recessive mutation leading to an amino acid su

208 n canary (Serinus canaria), which carries an autosomal recessive mutation that renders its plumage pu

209 However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-telangiectasia m

210 In humans, autosomal recessive mutations in both genes cause simila

211 ediatric lysosomal storage disease caused by autosomal recessive mutations in CLN3, typified by blind

212 Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) caus

213 We identified 3 novel autosomal recessive mutations in ORAI1 in unrelated kind

214 ts belonging to four different families with autosomal recessive mutations in SLC13A5.

215 Berardinelli-Seip lipodystrophy is caused by autosomal recessive mutations in the BSCL2 gene that enc

216 We report autosomal recessive mutations in the enzyme glutamate py

217 gressive neurodegenerative disease caused by autosomal recessive mutations in the GAN gene resulting

218 The primary cause of KOS is autosomal recessive mutations in the gene UBE3B However,

219 ukodystrophy (GLD, Krabbe disease) is due to autosomal recessive mutations in the lysosomal enzyme ga

220 leptic encephalopathy (MIM 615905) caused by autosomal recessive mutations in the SLC13A5 gene.

221 uropean populations and is inherited through autosomal recessive mutations in the Tyrosinase (TYR) ge

222 e Matchmaker Exchange initiative by matching autosomal-recessive mutations in AP3B2.

223 Autosomal-recessive mutations in AP3D1 cause a severe di

224 a fatal lysosomal storage disease caused by autosomal-recessive mutations in CLN3 for which no treat

225 In this study we demonstrate that (i) autosomal-recessive mutations in POLR3A are a frequent c

226 sphate cotransporter 2A (NaPi-IIa), revealed autosomal-recessive mutations in the four index cases an

227 involvement also occurs in patients with an autosomal recessive neurocutaneous syndrome due to ALDH1

228 Here, we report an unusual autosomal recessive neurodegenerative condition, best cl

229 Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by

230 Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease resulting

231 protein is reportedly inactive, whereas the autosomal recessive neurodegenerative disease SCAN1 has

232 Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease that affec

233 ons in three of four human VPS13 genes cause autosomal recessive neurodegenerative or neurodevelopmen

234 SPG23 is an autosomal-recessive neurodegenerative subtype of lower l

235 iemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage

236 and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative

237 cause Chudley-McCullough syndrome (CMCS), an autosomal recessive neurological disorder characterized

238 Mutations in CSB are associated with the autosomal-recessive neurological disorder Cockayne syndr

239 -2-Hydroxyglutarate aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder caused by a

240 Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leadin

241 Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is cause

242 SMA is an autosomal recessive neuromuscular disorder that results

243 ts forward mutations in RCBTB1 as a cause of autosomal-recessive non-syndromic and syndromic iRD.

244 ers Bardet-Biedl syndrome (BBS), a monogenic autosomal recessive nonmotile ciliopathy, as an archetyp

245 und in 3 of 24 unrelated patients (15%) with autosomal recessive nonsyndromic optic atrophy (arNSOA)

246 S1PR2 lies within the autosomal-recessive nonsyndromic hearing impairment (ARN

247 plicating CEP19, which is associated with an autosomal-recessive obesity syndrome when mutated, in th

248 Autosomal-recessive omodysplasia (OMOD1) is a genetic co

249 es, and are inherited in autosomal dominant, autosomal recessive or X-linked patterns.

250 Autosomal recessive osteopetrosis (ARO) is a heterogeneo

251 he products of two genes that are mutated in autosomal recessive parkinsonism, PINK1 and Parkin, norm

252 Autosomal recessive, partial GINS1 deficiency impairs DN

253 Here we report four autosomal-recessive pathogenic mutations in the gene enc

254 dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients).

255 mboembolic disease; the disorder followed an autosomal recessive pattern of inheritance.

256 Spinal muscular atrophy (SMA) is an autosomal-recessive pediatric neurodegenerative disease

257 ndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders

258 both genes are known causes of a spectrum of autosomal-recessive peroxisome-biogenesis disorders (PBD

259 ic disease in Cys1(cpk/cpk) mice, a model of autosomal recessive PKD, leading to a modest but signifi

260 Autosomal recessive polycystic kidney disease (ARPKD) is

261 Autosomal recessive polycystic kidney disease (ARPKD), u

262 -wide basis of heterozygous mutations in the autosomal recessive polycystic kidney disease gene PKHD1

263 g loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spe

264 Here we describe an autosomal recessive presynaptic congenital myasthenic sy

265 ontaining protein 9 (CARD9) deficiency is an autosomal recessive primary immunodeficiency conferring

266 This allows for emergence of many autosomal recessive primary immunodeficiency diseases.

267 Autosomal recessive primary microcephaly (MCPH) is a rar

268 nic brain and is mutated in individuals with autosomal recessive primary microcephaly.

269 Autosomal-recessive primary microcephaly (MCPH) is a neu

270 individuals with an uncommon combination of autosomal recessive progressive cone-rod degeneration ac

271 neous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME)

272 ORF37 were previously associated with severe autosomal recessive retinal dystrophies (retinitis pigme

273 Mutations in CRB1 lead to a spectrum of autosomal recessive retinal dystrophies with variable ph

274 Mutations in EYS are associated with autosomal recessive retinitis pigmentosa (arRP) and auto

275 nd describe the phenotype in 4 families with autosomal recessive retinitis pigmentosa (arRP) that can

276 on pathway, in three unrelated families with autosomal recessive retinitis pigmentosa (RP), but witho

277 halmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod

278 nce was associated with RP progression, with autosomal recessive RP progressing at 148 mum/year and a

279 nel beta 1 (CNGB1) cause approximately 4% of autosomal recessive RP.

280 nhancing protein 6, in several families with autosomal recessive RP.

281 Protein 6 (REEP6) in seven individuals with autosomal-recessive RP from five unrelated families.

282 Ellis-van Creveld (EvC) syndrome is an autosomal-recessive skeletal dysplasia, characterized by

283 ima-type palmoplantar keratosis (NPPK) is an autosomal recessive skin disorder with a high, unmet med

284 The neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix Saguena

285 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguena

286 Autosomal recessive spastic ataxia of Charlevoix-Saguena

287 omal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephro

288 Mutant NCKX1 has been linked to autosomal-recessive stationary night blindness.

289 Cystinosis is a rare autosomal recessive storage disorder characterized by de

290 gene have previously been associated with an autosomal-recessive syndrome characterized by microcepha

291 perturb TTT complex stability, and cause an autosomal-recessive syndromic form of ID.

292 nosine deaminase (ADA) deficiency is a rare, autosomal-recessive systemic metabolic disease character

293 describe here eight related individuals with autosomal recessive TIRAP deficiency.

294 -S biogenesis, result in CSA inherited as an autosomal recessive trait.

295 ansmitted either as an autosomal-dominant or autosomal-recessive trait or appear sporadically.

296 Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the

297 associated with developmental impairment and autosomal-recessive variants in AP3B2 by means of whole-

298 a whole-exome sequencing, we identified rare autosomal-recessive variants in UBA5 in five children fr

299 Autosomal-recessive variations of AP3B1, the ubiquitous

300 ptic atrophy (arNSOA) and in 8 patients with autosomal recessive Wolfram syndrome (arWS) associated w