ライフサイエンスコーパス: recessive disorder

1 congenital adrenal hyperplasia, an autosomal recessive disorder.

2 amilies, it is considered to be an autosomal-recessive disorder.

3 erma pigmentosum variant (XPV), an autosomal recessive disorder.

4 s compared to AT patients, as expected for a recessive disorder.

5 giant axonal neuropathy (GAN), an autosomal recessive disorder.

6 out the molecular mechanisms underlying this recessive disorder.

7 underlying Lesch-Nyhan syndrome, an X-linked recessive disorder.

8 ome is a genetically heterogeneous autosomal recessive disorder.

9 to identify genetic causes of heterogeneous recessive disorders.

10 utations occurring in autosomal dominant and recessive disorders.

11 to identify genetic causes in heterogeneous recessive disorders.

12 sed for gene therapy trials for a variety of recessive disorders.

13 ng for aneuploidies or carrier screening for recessive disorders.

14 etely replace the heterotrimers only in rare recessive disorders.

15 del for secondary-variant burden analysis in recessive disorders.

16 of mutation detection in other dominant and recessive disorders.

17 ies for the identification of rare autosomal recessive disorders.

18 (CMD) are a heterogeneous group of autosomal recessive disorders.

19 ation methods in the context of dominant and recessive disorders.

20 nd is one of the most common known autosomal recessive disorders.

21 disorders and identified four new autosomal recessive disorders.

22 chenne muscular dystrophy (DMD), an X-linked recessive disorder affecting 1 in 3500 males, is caused

23 ome is a genetically heterogeneous autosomal recessive disorder affecting mice and humans, which caus

24 Cystic fibrosis (CF) is an autosomal recessive disorder affecting the cystic fibrosis transme

25 pinal muscular atrophy (SMA) is an autosomal recessive disorder affecting the expression or function

26 t genetic evidence that BFPP is an autosomal recessive disorder and serves as a starting point for th

27 the deleterious effects of consanguinity on recessive disorders and consider how other factors, such

28 for further in-depth research on ARS related recessive disorders and precision therapies.

29 1B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid excess (A

30 frequently identified; somatic mosaicism and recessive disorders are also seen.

31 anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations.

32 Bloom's syndrome (BS) is an autosomal recessive disorder associated with an elevated incidence

33 Fanconi anaemia (FA) is a rare recessive disorder associated with chromosomal fragility

34 coagulation factor deficiency, an autosomal recessive disorder associated with GGCX mutations.

35 al encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with multiple mutations in

36 Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene

37 Fanconi anemia (FA) is an autosomal recessive disorder associated with pancytopenia and canc

38 y hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE varian

39 Werner syndrome is an autosomal recessive disorder associated with premature aging and c

40 The Bjornstad syndrome, an autosomal recessive disorder associated with sensorineural hearing

41 man achromatopsia, a heterogeneous autosomal recessive disorder associated with three distinct loci.

42 Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2

43 utation of ATM occurs in the human autosomal recessive disorder ataxia-telangiectasia, which is chara

44 patients with Tangier disease, an autosomal recessive disorder because of mutations in ATP-binding c

45 Persons with the autosomal recessive disorder Bloom syndrome are predisposed to can

46 MPS typically segregates as an autosomal-recessive disorder, but rare instances of autosomal-domi

47 tions in this enzyme cause a human autosomal recessive disorder called primary metabolic aciduria, wh

48 by the gene PRG4) cause the human autosomal recessive disorder camptodactyly-arthropathy-coxa vara-p

49 Type II hyperprolinemia is an autosomal recessive disorder caused by a deficiency in Delta(1)-py

50 ysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency of N-acetylgal

51 Mucopolysaccharidosis IVA is an autosomal recessive disorder caused by a deficiency of N-acetylgal

52 Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the cerulopla

53 Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency

54 Our study identifies an autosomal recessive disorder caused by an MCM8 mutation that manif

55 Sandhoff disease is an autosomal recessive disorder caused by beta-hexosaminidase deficie

56 ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutations in AP1

57 Gray platelet syndrome (GPS) is a rare recessive disorder caused by biallelic variants in NBEAL

58 disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen

59 disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-

60 hmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by deleterious mutations in th

61 ated with Gaucher disease (GD), an autosomal recessive disorder caused by functional deficiency of gl

62 late malabsorption (HFM) is a rare autosomal recessive disorder caused by impaired intestinal folate

63 absorption (OMIM 229050) is a rare autosomal recessive disorder caused by loss-of-function mutations

64 al encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by loss-of-function mutations

65 ficiency Syndrome (DTDS) is a rare autosomal recessive disorder caused by loss-of-function mutations

66 Giant axonal neuropathy (GAN), an autosomal recessive disorder caused by mutations in GAN, is charac

67 Lowe syndrome (LS) is an X-linked recessive disorder caused by mutations in OCRL, which en

68 pseudoxanthoma elasticum (PXE), an autosomal recessive disorder caused by mutations in the ABCC6 gene

69 Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the acid beta-

70 died ataxia telangiectasia (AT), a classical recessive disorder caused by mutations in the ataxia tel

71 APECED is an autosomal recessive disorder caused by mutations in the autoimmune

72 Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CF transme

73 Wilson disease (WD) is an autosomal-recessive disorder caused by mutations in the copper (Cu

74 enne muscular dystrophy is a lethal X-linked recessive disorder caused by mutations in the dystrophin

75 Alkaptonuria, a rare autosomal-recessive disorder caused by mutations in the HGD gene a

76 e megaloblastic anaemia (TRMA), an autosomal recessive disorder caused by mutations in the human thia

77 ar dystrophy type 1A (MDC1A) is an autosomal recessive disorder caused by mutations in the laminin-al

78 Bloom syndrome is an autosomal recessive disorder caused by mutations in the RecQ famil

79 Bloom syndrome (BS) is an autosomal recessive disorder caused by mutations in the RecQ-like

80 n, and cholestasis (ARC) syndrome is a fatal recessive disorder caused by mutations in the VPS33B or

81 ncephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP gene, enc

82 Wolfram syndrome is an autosomal recessive disorder caused by mutations in WFS1 and is ch

83 nn-Pick type C (NPC) disease is an autosomal recessive disorder caused by mutations of NPC1 and NPC2

84 vertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the propr

85 nfantile-onset Pompe disease is an autosomal recessive disorder caused by the complete loss of lysoso

86 trophy is a severe life-threatening X-linked recessive disorder, caused by mutations in the dystrophi

87 Pudlak syndrome type 1 (HPS-1), an autosomal recessive disorder causing pigmentary dilution, visual d

88 Joubert Syndrome (JS) is a rare autosomal recessive disorder characterised clinically by neonatal

89 form of Joubert syndrome (JS), an autosomal recessive disorder characterized by a distinctive cerebe

90 ert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hi

91 pinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by a loss of alpha moto

92 eu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by a recognizable patte

93 Bloom's syndrome (BS) is an autosomal recessive disorder characterized by a strong cancer pred

94 sy syndrome (PMSE) is a rare human autosomal-recessive disorder characterized by abnormal brain devel

95 Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal vertebral s

96 pinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by alpha-motor neuron l

97 Triple A syndrome is a human autosomal recessive disorder characterized by an unusual array of

98 Fanconi anemia (FA) is an autosomal recessive disorder characterized by aplastic anemia, can

99 Fanconi anemia is an autosomal recessive disorder characterized by aplastic anemia, can

100 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic

101 chman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by bone marrow failure,

102 Fanconi anemia (FA) is an autosomal recessive disorder characterized by cellular hypersensit

103 Here we describe an autosomal recessive disorder characterized by cerebellar hypoplasi

104 Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by cerebellum and brain

105 Primary ciliary dyskinesia is an autosomal recessive disorder characterized by chronic upper and lo

106 Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, pho

107 Achromatopsia is an autosomal recessive disorder characterized by cone photoreceptor d

108 Fanconi anemia (FA) is a recessive disorder characterized by congenital abnormali

109 cification of infancy (GACI) is an autosomal recessive disorder characterized by congenital calcifica

110 We report a novel recessive disorder characterized by congenital insensiti

111 Joubert syndrome is an autosomal recessive disorder characterized by congenital malformat

112 od, but that of Rotor syndrome, an autosomal recessive disorder characterized by conjugated hyperbili

113 Fraser syndrome is a rare recessive disorder characterized by cryptophthalmos, syn

114 (FS) is a phenotypically variable, autosomal recessive disorder characterized by cryptophthalmus, cut

115 pinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by death of motor neuro

116 CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin

117 icro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnorm

118 Wolfram syndrome, an autosomal recessive disorder characterized by diabetes mellitus an

119 Hallervorden-Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsoni

120 Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder characterized by ectopic mineralizati

121 cosis in Bedlington terriers is an autosomal recessive disorder characterized by excessive hepatic co

122 man-Diamond syndrome (SDS), a rare autosomal-recessive disorder characterized by exocrine pancreatic

123 in Peters plus syndrome (PPS), an autosomal recessive disorder characterized by eye and other develo

124 or the cause of a newly discovered autosomal recessive disorder characterized by generalized malabsor

125 splasia (or, Raine syndrome) is an autosomal recessive disorder characterized by generalized osteoscl

126 Fanconi anemia is a rare recessive disorder characterized by genome instability,

127 Fanconi anaemia (FA) is a recessive disorder characterized by genomic instability,

128 Bloom's syndrome (BS) is an autosomal recessive disorder characterized by growth retardation,

129 s a rare multi-genic, autosomal and X-linked recessive disorder characterized by hematological abnorm

130 n-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by hyperkeratosis invol

131 ither ABCG5 or ABCG8 cause sitosterolemia, a recessive disorder characterized by impaired biliary and

132 n with anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by insensitivity to nox

133 Wolfram syndrome is an autosomal-recessive disorder characterized by insulin-dependent di

134 -GS, megaloblastic anemia 1) is an autosomal recessive disorder characterized by intestinal cobalamin

135 eckel syndrome (OMIM 210600) is an autosomal recessive disorder characterized by intrauterine growth

136 epatoenteric syndrome (THES) is an autosomal-recessive disorder characterized by life-threatening dia

137 pinal Muscular Atrophy (SMA) is an autosomal recessive disorder characterized by loss of lower motor

138 Primary microcephaly is an autosomal recessive disorder characterized by marked reduction in

139 ppi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- a

140 ndrome type IIA (MIM: 27601) is an autosomal recessive disorder characterized by moderate to severe c

141 sociated with cblX (MIM309541), an X-linked, recessive disorder characterized by multiple congenital

142 Kindler syndrome is an autosomal recessive disorder characterized by neonatal blistering,

143 Wolfram syndrome is an autosomal recessive disorder characterized by neurodegeneration an

144 BS) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, retinal deg

145 syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by obesity, retinopathy

146 ault syndrome is a genetically heterogeneous recessive disorder characterized by ovarian dysgenesis a

147 Perrault syndrome is a recessive disorder characterized by ovarian dysgenesis i

148 A) is a genetically heterogeneous, autosomal recessive disorder characterized by pediatric bone marro

149 d-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, small

150 hmund-Thomson syndrome (RTS) is an autosomal-recessive disorder characterized by poikiloderma, sparse

151 rome (MKS) is an embryonic lethal, autosomal recessive disorder characterized by polycystic kidney di

152 usick-Kaufman syndrome (MKS) is an autosomal recessive disorder characterized by post-axial polydacty

153 taxia telangiectasia (A-T), a rare autosomal recessive disorder characterized by progressive cerebell

154 Usher syndrome 3A (USH3A) is an autosomal recessive disorder characterized by progressive loss of

155 megaconial myopathy (MDCMC) is an autosomal recessive disorder characterized by progressive muscle w

156 Usher syndrome type III is an autosomal recessive disorder characterized by progressive sensorin

157 al encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by ptosis and progressi

158 Pendred's syndrome is an autosomal recessive disorder characterized by sensorineural deafne

159 Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearin

160 eu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by severe fetal growth

161 dystrophy (FCMD, MIM#253800) is an autosomal recessive disorder characterized by severe muscular dyst

162 pinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by severe, often fatal

163 oporosis-pseudoglioma syndrome, an autosomal recessive disorder characterized by severely reduced bon

164 la-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facia

165 iphyseal dysplasia (SMED), a rare, autosomal recessive disorder characterized by short stature, short

166 and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal abnormaliti

167 o-osseous dysplasia, a multisystem autosomal recessive disorder characterized by T cell immunodeficie

168 Cystic fibrosis (CF) is an autosomal recessive disorder characterized by the accumulation of

169 Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of s

170 Abetalipoproteinemia is a rare autosomal recessive disorder characterized by the inability to pro

171 epidermolysis bullosa (RDEB) is an autosomal recessive disorder characterized by the loss of collagen

172 r syndrome (OMIM 173650) is a rare autosomal recessive disorder characterized by trauma-induced blist

173 opoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by uroporphyrinogen III

174 lomyopathy is a rare multisystemic autosomic recessive disorder characterized by: onset typically bef

175 sia describes a group of inherited autosomal recessive disorders characterized by an enzymatic defect

176 e (BS) and Fanconi anemia (FA) are autosomal recessive disorders characterized by cancer and chromoso

177 syndrome (HPS) defines a group of autosomal recessive disorders characterized by deficiencies in lys

178 ntion disease and Anderson disease, two rare recessive disorders characterized by severe fat malabsor

179 tasia (AT) are clinically distinct autosomal recessive disorders characterized by spontaneous chromos

180 D) is a genetically heterogeneous, autosomal-recessive disorder, characterized by oto-sino-pulmonary

181 o be mutated in Lafora disease, an autosomal recessive disorder clinically characterized by the accum

182 MAS is similar to the autosomal recessive disorders collectively known as familial hemop

183 Chuvash form of polycythemia is an autosomal recessive disorder common to a large number of families

184 icated in epidermodysplasia verruciformis, a recessive disorder comprising susceptibility to cutaneou

185 The autosomal recessive disorder cystic fibrosis (CF) affects approxim

186 adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in

187 promises to catalyze the discovery of novel recessive disorders, especially those with less consiste

188 t UPD should be considered in SCID and other recessive disorders, especially when the patient appears

189 These rare autosomal recessive disorders exhibit a spectrum of developmental

190 congenital lipodystrophy type 2 (BSCL2) is a recessive disorder featuring near complete absence of ad

191 enile macular dystrophy (HJMD), an autosomal recessive disorder featuring sparse and short hair.

192 nd hereditary parakeratosis, is an autosomal recessive disorder first described in 1964, with a clini

193 Athabascan SCID (SCIDA) is an autosomal recessive disorder found among Athabascan-speaking Nativ

194 ary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of

195 pping indicated a mutation on 1p36, and this recessive disorder has been designated spinocerebellar a

196 rter (PCFT, SLC46A1) result in the autosomal recessive disorder, hereditary folate malabsorption (HFM

197 ne are the molecular basis for the autosomal recessive disorder, hereditary folate malabsorption.

198 tion mutations in this gene in the autosomal recessive disorder, hereditary folate malabsorption.

199 The alleles segregated appropriately for a recessive disorder in each family.

200 describe a clinically recognizable autosomal-recessive disorder in four affected siblings from a cons

201 muscular atrophy (SMA) is a common autosomal recessive disorder in humans and the leading genetic cau

202 Werner syndrome (WS) is a rare autosomal recessive disorder in humans characterized by premature

203 pinal muscular atrophy (SMA) is an autosomal recessive disorder in humans which results in the loss o

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

205 fibrosis is the most common lethal autosomal recessive disorder in the Caucasian population.

206 Fabry disease is an X-linked recessive disorder in which affected persons lack alpha-

207 concern that leads to the high prevalence of recessive disorders in the Middle East and North Africa

208 le might also play a role in other autosomal-recessive disorders, in which only one heterozygous path

209 This recessive disorder is characterized by a failure to meta

210 s once thought to be a homogeneous autosomal recessive disorder is now known to map to at least six l

211 The defining characteristic of recessive disorders is the absence of disease in heteroz

212 significantly reduced in patients with this recessive disorder, is a mitochondrial iron-binding prot

213 Spinal muscular atrophy, an autosomal recessive disorder, is caused by loss of the SMN1 (survi

214 Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism

215 erythropoietic porphyria (CEP), an autosomal recessive disorder, is due to mutations of uroporphyrino

216 Bloom syndrome (BS), an autosomal recessive disorder, is marked by a high incidence of can

217 The autosomal recessive disorder lipoid proteinosis results from mutat

218 We identified two families with an autosomal-recessive disorder manifested by severe enamel hypoplasi

219 yltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crysta

220 eudoxanthoma elasticum (PXE) is an autosomal recessive disorder manifesting with ectopic connective t

221 This is an autosomal recessive disorder mapped to chromosome 1q42.12 due to m

222 Joubert syndrome (JS) is an autosomal recessive disorder marked by agenesis of the cerebellar

223 Both offspring in this family have two recessive disorders: Miller syndrome, for which the gene

224 Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder (MIM 203500) that is caused byby a co

225 or some forms of congenital SSS and define a recessive disorder of a human heart voltage-gated sodium

226 taric acidemia type I (GA-I) is an autosomal recessive disorder of amino acid metabolism resulting fr

227 Cystic fibrosis (CF) is an autosomal recessive disorder of Cl(-) and Na(+) transport.

228 Wilson disease (WD) is a monogenic autosomal-recessive disorder of copper accumulation that leads to

229 oderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair characterized by sun se

230 Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation characterized

231 We evaluated patients who had a novel recessive disorder of glycosylation, with a range of cli

232 ythropoietic porphyria (CEP) is an autosomal recessive disorder of heme synthesis characterized by re

233 Hereditary hemochromatosis is an autosomal recessive disorder of iron overload leading to oxidative

234 onset, genetically heterogeneous, autosomal recessive disorder of iron overload.

235 kinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia that leads to oto-sin

236 kinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia, but the genetic caus

237 multifocal retinopathy (cmr) is an autosomal recessive disorder of multiple dog breeds.

238 known to cause DBP deficiency, an autosomal-recessive disorder of peroxisomal fatty acid beta-oxidat

239 Mulefoot disease (MFD) is an autosomal recessive disorder of phenotypically variable expression

240 or ABCG8 cause sitosterolemia, an autosomal recessive disorder of sterol trafficking.

241 eizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause.

242 rmansky-Pudlak syndrome (HPS) is a family of recessive disorders of intracellular trafficking defects

243 lesterolemia, suggesting either an autosomal recessive disorder or a de novo mutation.

244 iency are the genetic cause of the autosomal recessive disorder phenylketonuria.

245 The recessive disorder poikiloderma with neutropenia (PN) is

246 terizes the phenotype of the rare, autosomal-recessive disorder posterior column ataxia and retinitis

247 Duchenne muscular dystrophy is an X-linked recessive disorder, primarily characterized by progressi

248 ausative genes responsible for the autosomal recessive disorder primary microcephaly.

249 one of the causative genes for the autosomal recessive disorder, primary microcephaly, characterized

250 Cockayne syndrome is an autosomal recessive disorder principally characterized by postnata

251 cy syndrome is a newly recognised, autosomal recessive disorder related to impaired dopamine transpor

252 cline in the two unrelated children define a recessive disorder resulting from compound heterozygosit

253 muscular dystrophy (EBS-MD) is an autosomal recessive disorder resulting from mutations in the plect

254 otropin (ACTH; OMIM 202200), is an autosomal recessive disorder resulting from resistance to the acti

255 The autosomal recessive disorder Shwachman-Diamond syndrome, character

256 e recently been shown to cause the autosomal recessive disorder sitosterolemia.

257 The childhood autosomal recessive disorder spinal muscular atrophy (SMA) is caus

258 a phenotype that is similar to the autosomal-recessive disorder spondylo-ocular syndrome of unknown c

259 also known as HSAN type III, is an autosomal recessive disorder that affects 1/3600 live births in th

260 he disease propionic acidaemia, an autosomal recessive disorder that can be fatal in infants.

261 ile macular dystrophy (HJMD) is an autosomal recessive disorder that causes childhood visual impairme

262 ystrophy, type 2A (LGMD 2A), is an autosomal recessive disorder that causes late-onset muscle-wasting

263 somes, causing Gaucher disease, an autosomal recessive disorder that displays profound genotype-pheno

264 protein B (SP-B) deficiency is an autosomal recessive disorder that impairs surfactant homeostasis a

265 ing with a previously unrecognized autosomal recessive disorder that included a severe form of spondy

266 Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically and clinical

267 Lesch-Nyhan disease is an X-linked recessive disorder that is caused by a wide variety of m

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

269 Alstrom syndrome is a homogeneous autosomal recessive disorder that is characterized by childhood ob

270 coagulation factor deficiency, an autosomal recessive disorder that is due to mutations in either th

271 Chuvash polycythemia is an autosomal recessive disorder that is endemic to the mid-Volga Rive

272 Bloom's syndrome (BS) is an autosomal recessive disorder that is invariably characterized by s

273 Niemann-Pick type C disease is an autosomal recessive disorder that leads to massive accumulation of

274 , sulfite oxidase deficiency is an inherited recessive disorder that produces severe neonatal neurolo

275 -Opitz syndrome (SLOS) is a common autosomal-recessive disorder that results from mutations in the ge

276 Wilson's disease (WD) is an autosomal recessive disorder that results in accumulation of coppe

277 (WWS), a genetically heterogeneous autosomal-recessive disorder that severely affects the development

278 eger spectrum disorders (ZSDs) are autosomal-recessive disorders that are caused by defects in peroxi

279 ophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature dysplasia or degenerati

280 ereditary folate malabsorption, an autosomal recessive disorder, the molecular basis for this low-pH

281 ALAD porphyria is a recessive disorder; there are two common variant ALAD al

282 Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and p

283 e disease (OMIM 247100) is a rare, autosomal recessive disorder typified by generalized thickening of

284 Chediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago.

285 in WRN are causally associated with a rare, recessive disorder, Werner syndrome (WS), distinguished

286 lyase (ADSL) deficiency is a rare autosomal recessive disorder, which causes a defect in purine meta

287 pinal muscular atrophy (SMA) is an autosomal recessive disorder, which is the leading genetic cause o

288 Cystic fibrosis is a life-limiting autosomal recessive disorder with a highly variable clinical prese

289 H2) is a genetically heterogeneous autosomal recessive disorder with at least three genetic subtypes

290 ome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and

291 e world populations segregating an autosomal-recessive disorder with CdLS-like features, we identifie

292 responsive basal ganglia disease (BBGD) is a recessive disorder with childhood onset that presents as

293 Yunis-Varon syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital

294 syndrome/SC phocomelia (RBS) is an autosomal recessive disorder with growth retardation, craniofacial

295 ng thoracic dystrophy (JATD) is an autosomal recessive disorder with symptoms of retinal degeneration

296 lasia (PCH) is a heterogeneous group of rare recessive disorders with prenatal onset, characterized b

297 Cohen Syndrome (CS) is a rare autosomal recessive disorder, with defective glycosylation seconda

298 XIII (FXIII) deficiency is a rare, autosomal-recessive disorder, with most patients having an A-subun

299 deficiency (CLD) is a rare severe autosomal recessive disorder, with symptoms like watery diarrhea,

300 iagnosed Turkish families with the autosomal recessive disorder xeroderma pigmentosum (XP).