ライフサイエンスコーパス: autosomal recessive disorder

1 with xeroderma pigmentosum variant (XPV), an autosomal recessive disorder.

2 ntified in giant axonal neuropathy (GAN), an autosomal recessive disorder.

3 ropenia (SCN) was originally described as an autosomal recessive disorder.

4 Sickle cell anemia is a common autosomal recessive disorder.

5 ICF) syndrome is a genetically heterogeneous autosomal recessive disorder.

6 cases in congenital adrenal hyperplasia, an autosomal recessive disorder.

7 guineous families, it is considered to be an autosomal-recessive disorder.

8 eous families for the identification of rare autosomal recessive disorders.

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

10 of cases and is one of the most common known autosomal recessive disorders.

11 elopmental disorders and identified four new autosomal recessive disorders.

12 In sitosterolemia, a rare autosomal recessive disorder, affected individuals hyper

13 In sitosterolemia, a rare autosomal recessive disorder, affected individuals hyper

14 dlak syndrome is a genetically heterogeneous autosomal recessive disorder affecting mice and humans,

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

16 Spinal muscular atrophy (SMA) is an autosomal recessive disorder affecting the expression or

17 s the first genetic evidence that BFPP is an autosomal recessive disorder and serves as a starting po

18 BBS is considered an autosomal recessive disorder, and recent positional clon

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

20 efects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutati

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

22 h multiple coagulation factor deficiency, an autosomal recessive disorder associated with GGCX mutati

23 rointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with multiple mu

24 Bloom syndrome is an autosomal recessive disorder associated with mutations i

25 Fanconi anemia (FA) is an autosomal recessive disorder associated with pancytopeni

26 Werner syndrome is an autosomal recessive disorder associated with premature a

27 The Bjornstad syndrome, an autosomal recessive disorder associated with sensorineur

28 ilar to human achromatopsia, a heterogeneous autosomal recessive disorder associated with three disti

29 Primary congenital glaucoma (PCG) is an autosomal recessive disorder associated with unknown dev

30 Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic

31 Mutation of ATM occurs in the human autosomal recessive disorder ataxia-telangiectasia, whic

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

33 Persons with the autosomal recessive disorder Bloom syndrome are predispo

34 MPS typically segregates as an autosomal-recessive disorder, but rare instances of auto

35 Mutations in this enzyme cause a human autosomal recessive disorder called primary metabolic ac

36 in encoded by the gene PRG4) cause the human autosomal recessive disorder camptodactyly-arthropathy-c

37 Type II hyperprolinemia is an autosomal recessive disorder caused by a deficiency in D

38 Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency of N

39 Mucopolysaccharidosis IVA is an autosomal recessive disorder caused by a deficiency of N

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

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

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

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

44 Fanconi anemia (FA) is an autosomal recessive disorder caused by defects in at lea

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

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

47 Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by deleterious mutat

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

49 editary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by impaired intestin

50 rointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by loss-of-function

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

52 folate malabsorption (OMIM 229050) is a rare autosomal recessive disorder caused by loss-of-function

53 Giant axonal neuropathy (GAN), an autosomal recessive disorder caused by mutations in GAN,

54 f classic pseudoxanthoma elasticum (PXE), an autosomal recessive disorder caused by mutations in the

55 -responsive megaloblastic anaemia (TRMA), an autosomal recessive disorder caused by mutations in the

56 Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in the

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

58 Bloom syndrome is an autosomal recessive disorder caused by mutations in the

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

60 tal muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder caused by mutations in the

61 Bloom syndrome (BS) is an autosomal recessive disorder caused by mutations in the

62 Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the

63 testinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP

64 Wolfram syndrome is an autosomal recessive disorder caused by mutations in WFS1

65 Niemann-Pick type C (NPC) disease is an autosomal recessive disorder caused by mutations of NPC1

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

67 Nephropathic cystinosis is an autosomal recessive disorder caused by the defective tra

68 uropathy, ichthyosis, and keratoderma) is an autosomal-recessive disorder caused by bi-allelic mutati

69 Alkaptonuria, a rare autosomal-recessive disorder caused by mutations in the

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

71 rotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in

72 l hypoperistalsis syndrome (MMIHS) is a rare autosomal recessive disorder causing a functional neonat

73 Hermansky-Pudlak syndrome type 1 (HPS-1), an autosomal recessive disorder causing pigmentary dilution

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

75 Sitosterolemia is a rare autosomal recessive disorder characterized by (a) intest

76 classical form of Joubert syndrome (JS), an autosomal recessive disorder characterized by a distinct

77 Bloom syndrome (BS) is an autosomal recessive disorder characterized by a high inc

78 Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by a loss of

79 al generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by a paucity

80 Bloom's syndrome (BS) is an autosomal recessive disorder characterized by a strong c

81 Triple A syndrome is a human autosomal recessive disorder characterized by an unusual

82 Fanconi anemia (FA) is an autosomal recessive disorder characterized by aplastic a

83 Fanconi anemia is an autosomal recessive disorder characterized by aplastic a

84 tasia-like syndrome [AOA]; MIM 208920) is an autosomal recessive disorder characterized by ataxia, oc

85 drome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral

86 Fanconi anemia (FA) is an autosomal recessive disorder characterized by birth defe

87 Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by bone marro

88 Fanconi anemia (FA) is an autosomal recessive disorder characterized by cellular h

89 Here we describe an autosomal recessive disorder characterized by cerebellar

90 Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by cerebellum

91 Primary ciliary dyskinesia is an autosomal recessive disorder characterized by chronic up

92 Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blin

93 Achromatopsia is an autosomal recessive disorder characterized by cone photo

94 Joubert syndrome is an autosomal recessive disorder characterized by congenital

95 terial calcification of infancy (GACI) is an autosomal recessive disorder characterized by congenital

96 y understood, but that of Rotor syndrome, an autosomal recessive disorder characterized by conjugated

97 syndrome (FS) is a phenotypically variable, autosomal recessive disorder characterized by cryptophth

98 Proximal spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by death of m

99 Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmen

100 Wolfram syndrome, an autosomal recessive disorder characterized by diabetes m

101 he gene responsible for Wolfram syndrome, an autosomal recessive disorder characterized by diabetes m

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

103 Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder characterized by ectopic mi

104 Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by excess abs

105 opper toxicosis in Bedlington terriers is an autosomal recessive disorder characterized by excessive

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

107 ic bone dysplasia (or, Raine syndrome) is an autosomal recessive disorder characterized by generalize

108 andidate for the cause of a newly discovered autosomal recessive disorder characterized by generalize

109 Bloom's syndrome is a rare autosomal recessive disorder characterized by genomic in

110 Bloom's syndrome (BS) is an autosomal recessive disorder characterized by growth ret

111 lycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth ret

112 Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by hyperkerat

113 Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis

114 iking exception occurs in sitosterolemia, an autosomal recessive disorder characterized by increased

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

116 yndrome (I-GS, megaloblastic anemia 1) is an autosomal recessive disorder characterized by intestinal

117 Seckel syndrome (OMIM 210600) is an autosomal recessive disorder characterized by intrauteri

118 tic anaemia 1 (MGA1, OMIM 261100) is a rare, autosomal recessive disorder characterized by juvenile m

119 Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder characterized by loss of lo

120 Cockayne syndrome (CS) is a human autosomal recessive disorder characterized by many neuro

121 Congenital generalized lipodystrophy is an autosomal recessive disorder characterized by marked pau

122 Primary microcephaly is an autosomal recessive disorder characterized by marked red

123 Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcepha

124 Usher syndrome type IIA (MIM: 27601) is an autosomal recessive disorder characterized by moderate t

125 Usher syndrome type IIa (USHIIa) is an autosomal recessive disorder characterized by moderate t

126 Kindler syndrome is an autosomal recessive disorder characterized by neonatal b

127 Wolfram syndrome is an autosomal recessive disorder characterized by neurodegen

128 Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by neuronal d

129 yndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, p

130 yndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by obesity, r

131 rdet-Biedl syndrome (BBS) is a heterogeneous autosomal recessive disorder characterized by obesity, r

132 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutan

133 Hermansky-Pudlak syndrome is an autosomal recessive disorder characterized by oculocutan

134 e atrophy of the choroid and retina (GA), an autosomal recessive disorder characterized by ornithine

135 anemia (FA) is a genetically heterogeneous, autosomal recessive disorder characterized by pediatric

136 Complete achromatopsia is a rare, autosomal recessive disorder characterized by photophobi

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

138 eckel syndrome (MKS) is an embryonic lethal, autosomal recessive disorder characterized by polycystic

139 McKusick-Kaufman syndrome (MKS) is an autosomal recessive disorder characterized by post-axial

140 Bloom's syndrome (BS) is a rare autosomal recessive disorder characterized by pre- and p

141 rophy with megaconial myopathy (MDCMC) is an autosomal recessive disorder characterized by progressiv

142 Usher syndrome 3A (USH3A) is an autosomal recessive disorder characterized by progressiv

143 Usher syndrome type III is an autosomal recessive disorder characterized by progressiv

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

145 rointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by ptosis and

146 Pendred's syndrome is an autosomal recessive disorder characterized by sensorineu

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

148 sease osteoporosis-pseudoglioma syndrome, an autosomal recessive disorder characterized by severely r

149 lo-meta-epiphyseal dysplasia (SMED), a rare, autosomal recessive disorder characterized by short stat

150 enetically and phenotypically heterogeneous, autosomal recessive disorder characterized by skeletal a

151 imke immuno-osseous dysplasia, a multisystem autosomal recessive disorder characterized by T cell imm

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

153 Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early

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

155 ystrophic epidermolysis bullosa (RDEB) is an autosomal recessive disorder characterized by the loss o

156 Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by tissue iro

157 Kindler syndrome (OMIM 173650) is a rare autosomal recessive disorder characterized by trauma-ind

158 tal erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by uroporphyr

159 Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by

160 l hyperplasia describes a group of inherited autosomal recessive disorders characterized by an enzyma

161 's syndrome (BS) and Fanconi anemia (FA) are autosomal recessive disorders characterized by cancer an

162 sky-Pudlak syndrome (HPS) defines a group of autosomal recessive disorders characterized by deficienc

163 telangiectasia (AT) are clinically distinct autosomal recessive disorders characterized by spontaneo

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

165 Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by a recogniz

166 tic epilepsy syndrome (PMSE) is a rare human autosomal-recessive disorder characterized by abnormal b

167 known as Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal v

168 Spinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by alpha-moto

169 Pendred's syndrome is an autosomal-recessive disorder characterized by deafness a

170 Shwachman-Diamond syndrome (SDS), a rare autosomal-recessive disorder characterized by exocrine p

171 Wolfram syndrome is an autosomal-recessive disorder characterized by insulin-de

172 Trichohepatoenteric syndrome (THES) is an autosomal-recessive disorder characterized by life-threa

173 Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcepha

174 Rothmund-Thomson syndrome (RTS) is an autosomal-recessive disorder characterized by poikiloder

175 Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by severe fet

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

177 Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stat

178 inesia (PCD) is a genetically heterogeneous, autosomal-recessive disorder, characterized by oto-sino-

179 is known to be mutated in Lafora disease, an autosomal recessive disorder clinically characterized by

180 MAS is similar to the autosomal recessive disorders collectively known as fami

181 The Chuvash form of polycythemia is an autosomal recessive disorder common to a large number of

182 nd decreased activity in humans leads to the autosomal recessive disorder congenital erythropoetic po

183 The autosomal recessive disorder cystic fibrosis (CF) affect

184 hinosinusitis is a consistent feature of the autosomal recessive disorder cystic fibrosis (CF).

185 rointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by sever

186 Few autosomal recessive disorders display the degree of plei

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

188 These rare autosomal recessive disorders exhibit a spectrum of deve

189 The autosomal recessive disorder familial dysautonomia (FD)

190 s with juvenile macular dystrophy (HJMD), an autosomal recessive disorder featuring sparse and short

191 disease, and hereditary parakeratosis, is an autosomal recessive disorder first described in 1964, wi

192 Athabascan SCID (SCIDA) is an autosomal recessive disorder found among Athabascan-spea

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

194 dase (beta-gal), the enzyme deficient in the autosomal recessive disorders G(M1) gangliosidosis and M

195 te transporter (PCFT, SLC46A1) result in the autosomal recessive disorder, hereditary folate malabsor

196 in this gene are the molecular basis for the autosomal recessive disorder, hereditary folate malabsor

197 ss-of-function mutations in this gene in the autosomal recessive disorder, hereditary folate malabsor

198 5q spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans and the leading g

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

200 Werner's syndrome (WS) is an autosomal recessive disorder in humans characterized by

201 ondro-osseous morphology similar to a lethal autosomal recessive disorder in humans termed dyssegment

202 Spinal muscular atrophy (SMA) is an autosomal recessive disorder in humans which results in

203 rmed nonclassical 21-OHD, is the most common autosomal recessive disorder in humans, and occurs in 1/

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

205 te kinase (MKase) deficiency (MKD) is a rare autosomal recessive disorder in the pathway of cholester

206 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous alb

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

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

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

210 What was once thought to be a homogeneous autosomal recessive disorder is now known to map to at l

211 Spinal muscular atrophy, an autosomal recessive disorder, is caused by loss of the S

212 Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partia

213 ongenital erythropoietic porphyria (CEP), an autosomal recessive disorder, is due to mutations of uro

214 Bloom syndrome (BS), an autosomal recessive disorder, is marked by a high incide

215 The autosomal recessive disorder lipoid proteinosis results

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

217 osphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis

218 Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder manifesting with ectopic co

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

220 Joubert syndrome (JS) is an autosomal recessive disorder marked by agenesis of the c

221 Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, ves

222 Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder (MIM 203500) that is caused

223 Glutaric acidemia type I (GA-I) is an autosomal recessive disorder of amino acid metabolism re

224 Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino aci

225 Cystic fibrosis (CF) is an autosomal recessive disorder of Cl(-) and Na(+) transpor

226 Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair characterized

227 Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation cau

228 Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation cha

229 genital erythropoietic porphyria (CEP) is an autosomal recessive disorder of heme synthesis character

230 Bloom's syndrome (BS) is a rare autosomal recessive disorder of humans characterized by

231 Hereditary hemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism characte

232 Hereditary hemochromatosis is a common autosomal recessive disorder of iron metabolism.

233 Aceruloplasminemia is an autosomal recessive disorder of iron metabolism.

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

235 s an early onset, genetically heterogeneous, autosomal recessive disorder of iron overload.

236 tonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism that

237 Seckel syndrome (MIM 210600) is an autosomal recessive disorder of low birth weight, severe

238 cy of surfactant protein-B (SP-B) is a fatal autosomal recessive disorder of lung cell metabolism cau

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

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

241 The human Bernard-Soulier syndrome is an autosomal recessive disorder of platelet dysfunction pre

242 e (ABC) G5 or ABCG8 cause sitosterolemia, an autosomal recessive disorder of sterol trafficking.

243 ion, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause.

244 Autosomal recessive disorders of B cell development are

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

246 SD17B4 are known to cause DBP deficiency, an autosomal-recessive disorder of peroxisomal fatty acid b

247 f hypercholesterolemia, suggesting either an autosomal recessive disorder or a de novo mutation.

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

249 on, characterizes the phenotype of the rare, autosomal-recessive disorder posterior column ataxia and

250 Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder predominantly characterized

251 et spinal muscular atrophy (SMA) is a common autosomal recessive disorder primarily characterized by

252 e of the causative genes responsible for the autosomal recessive disorder primary microcephaly.

253 MCPH1) is one of the causative genes for the autosomal recessive disorder, primary microcephaly, char

254 Cockayne syndrome is an autosomal recessive disorder principally characterized b

255 r deficiency syndrome is a newly recognised, autosomal recessive disorder related to impaired dopamin

256 late-onset muscular dystrophy (EBS-MD) is an autosomal recessive disorder resulting from mutations in

257 renocorticotropin (ACTH; OMIM 202200), is an autosomal recessive disorder resulting from resistance t

258 The autosomal recessive disorder Shwachman-Diamond syndrome,

259 ABCG8 have recently been shown to cause the autosomal recessive disorder sitosterolemia.

260 The childhood autosomal recessive disorder spinal muscular atrophy (SM

261 defects, a phenotype that is similar to the autosomal-recessive disorder spondylo-ocular syndrome of

262 mia (FD), also known as HSAN type III, is an autosomal recessive disorder that affects 1/3600 live bi

263 inked to the disease propionic acidaemia, an autosomal recessive disorder that can be fatal in infant

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

265 muscular dystrophy, type 2A (LGMD 2A), is an autosomal recessive disorder that causes late-onset musc

266 es in lysosomes, causing Gaucher disease, an autosomal recessive disorder that displays profound geno

267 Surfactant protein B (SP-B) deficiency is an autosomal recessive disorder that impairs surfactant hom

268 s, presenting with a previously unrecognized autosomal recessive disorder that included a severe form

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

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

271 Alstrom syndrome is a homogeneous autosomal recessive disorder that is characterized by ch

272 -dependent coagulation factor deficiency, an autosomal recessive disorder that is due to mutations in

273 Chuvash polycythemia is an autosomal recessive disorder that is endemic to the mid-

274 Bloom's syndrome (BS) is an autosomal recessive disorder that is invariably characte

275 th periodontopathia (PLS, MIM 245000), is an autosomal recessive disorder that is mainly ascertained

276 Niemann-Pick type C disease is an autosomal recessive disorder that leads to massive accum

277 PPD is an autosomal recessive disorder that may be initially misdi

278 Wilson's disease (WD) is an autosomal recessive disorder that results in accumulatio

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

280 syndrome (WWS), a genetically heterogeneous autosomal-recessive disorder that severely affects the d

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

282 tated in hereditary folate malabsorption, an autosomal recessive disorder, the molecular basis for th

283 bach-Wiethe disease (OMIM 247100) is a rare, autosomal recessive disorder typified by generalized thi

284 Chediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 year

285 osuccinate lyase (ADSL) deficiency is a rare autosomal recessive disorder, which causes a defect in p

286 Spinal muscular atrophy (SMA) is an autosomal recessive disorder, which is the leading genet

287 Friedreich's ataxia (FRDA) is an autosomal recessive disorder with a frequency of 1 in 50

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

289 ype II (USH2) is a genetically heterogeneous autosomal recessive disorder with at least three genetic

290 ic anaemia syndrome (TRMA; MIM 249270) is an autosomal recessive disorder with features that include

291 Roberts syndrome/SC phocomelia (RBS) is an autosomal recessive disorder with growth retardation, cr

292 Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with locus heterogeneity.

293 asphyxiating thoracic dystrophy (JATD) is an autosomal recessive disorder with symptoms of retinal de

294 yndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical f

295 2 separate world populations segregating an autosomal-recessive disorder with CdLS-like features, we

296 Yunis-Varon syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasi

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

298 al lactase deficiency (CLD) is a rare severe autosomal recessive disorder, with symptoms like watery

299 al factor XIII (FXIII) deficiency is a rare, autosomal-recessive disorder, with most patients having

300 wo newly diagnosed Turkish families with the autosomal recessive disorder xeroderma pigmentosum (XP).