LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 1 17,20-lyase deficiency MIM:202110 BA 2 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia S 3 17-Beta-Hydroxysteroid deyhdrogenase X deficiency MIM:300438 S 4 2-Methylbutytyrglycinuria MIM:610006 QP

5 21-hydroxylase deficiency MIM:201910, C0852654 S 6 3-Beta-Hydroxysteroid Dehydrogenase Skype II Deficiency ΒΑ 7 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency ΒΑ

8 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM: 210200 QP-BA

9 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM: 210210 QP-BA

10 3-Methylglutaconic aciduria, type III MIM:258501 BA 11 5-alpha reductase deficiency ΒΑ 12 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency S

13 Aaarskog-Scottsyndrome;Mental retardation, X-linked 16 MIM: 305400 QP 14 ABCC8-Related Hyperinsulinism S

15 Abetalipoproteinemia MIM: 200100 Q-BA 16 Achalasia-Addisonianism-Alacrima Syndrome ΒΑ

17 Achondrogenesis, type IB MIM:600972, C0265274 QP-BA 18 Achromatopsia, CNGA3-Related ΒΑ 19 Achromatopsia, CNGB3-Related ΒΑ

20 Achromatopsia 3 MIM:262300, C1849792 QP-BA

21 Acrodermatitis enteropathica MIM:201100 BA 22 Acromesomelic dysplasia MIM:201250 BA 23 Acute Infantile Liver Failure, TRMU-Related ΒΑ

SAFEMBRYO 1 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test

24 Acyl-CoA dehydrogenase, medium chain deficiency of MIM:201450 QP-Q-BA

25 Acyl-CoA dehydrogenase, short chain deficiency of MIM:201470 QP-BA

26 Acyl-CoA dehydrogenase, very long chain deficiency of MIM:201475 BA 27 Acyl-CoA Oxidase I Deficiency ΒΑ 28 Adenosine Deaminase Deficiency S

29 Adrenal Hyperplasia congenital due to 17-alpha-hydroxylase deficiency MIM: 202110 QP

30 Adrenal Hyperplasia congenital due to 21-hydroxylase deficiency MIM: 201910 QP-BA

31 Adrenal Hyperplasia congenital due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM:201810 BA

32 Adrenal Hyperplasia congenital due to 11-beta-hydroxylase deficiency MIM:202010 BA

33 Adrenoleukodystrophy : X-linked MIM:300100, C0162309 QP-Q-S-BA

34 Agenesis of the corpus callosum with peripheral neuropathy MIM:218000 BA 35 Aicardi-Gouti res Syndrome ΒΑ 36 Aicardi-Goutieres syndrome, RNASEH2C-related ΒΑ 37 Aicardi-Goutieres syndrome, TREX1-related ΒΑ

38 Albinism oculocutaneous type IA MIM:203100 BA

39 Albinism oculocutaneous type IB MIM:606952 BA

40 Albinism oculocutaneous type IV MIM:606574 BA

41 Albinism/Waardenburg syndrome, digenic MIM:103470 BA

42 Aldonesteronism, glucocorticoid-remediable MIM:103900 BA MIM:203500, MIM:607474, C000 43 Alkaptonuria QP-BA 2066 44 Allan-Herndon-Dudley syndrome MIM 300523 QP 45 Alpha-1-antirypsin deficiency MIM:613490 BA 46 Alpha-Mannosidosis S

SAFEMBRYO 2 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test

47 Alpha-methylacetoacetic aciduria MIM: 203750 QP-Q-BA 48 Alpha-Sarcoglycanopathy(including Limb-Girdle Muscular Dystrophy, Type 2D) S

49 Alpha-Thalassemia/mental retardation syndrome MIM: 301040 QP-S-BA

50 Alport syndrome, autosomal recessive COL4A3 related MIM: 203780 Q-BA

51 Alport syndrome, autosomal recessive COL4A4 related MIM:203780 Q-BA

52 Alport syndrome, X-linked MIM:301050 QP-S-BA 53 Alstrom Syndrome S

54 Amegakaryocytic thrombocytopenia, congenital MIM:604498 BA

55 Amelogenesis imperfecta, type Ia MIM:104530 BA 56 AMT-Related Glycine Encephalopathy S

57 Andermann syndrome MIM:218000, C0795950 Q-S

58 Androgen insensitivity MIM:300068 QP-Q-BA

59 Antley-Bixler syndrome MIM:204710, 201750 BA

60 Argininemia MIM: 207800 QP-Q-S-BA 61 Argininosuccinate Lyase Deficiency ΒΑ

62 Argininosuccinic aciduria MIM: 207900 QP-Q-S-BA

63 Aromatase deficiency MIM: 613546 Q-BA 64 ARSACS S

65 Arthrogryposis, mental retardation, and seizures MIM:615553 BA

66 Arts Syndrome MIM: 301835 QP-BA 67 Asparagine Synthetase Deficiency ΒΑ 68 Aspartylglucosaminuria MIM:208400, C0268225 QP-Q-S-BA

69 Ataxia with vitamin E deficiency MIM:277460, C1848533 QP-Q-S-BA

SAFEMBRYO 3 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test

70 Ataxia-telangiectasia syndrome MIM:208900, C0004135 QP-Q-S-BA 71 Ataxia-telangiectasia-like disorder 1 ΒΑ

72 Atelosteogenesis, type II/De la Chapelle dysplasia MIM:256050 BA 73 ATP7A-Related Disordes S

74 Auditory Neuropathy, autosomal recessive, 1 MIM: 601071 QP 75 Autism Spectrum, Epilepsy and Arthrogryposis ΒΑ

76 Autoimmune polyendocrine syndrome, type I, with or without reverible metaphyseal dtsplasia MIM:240300 BA

77 Autoimmune polyendocrinopathy syndrome, type 1 with or without reversible metaphyseal dysplasia MIM: 240300 QP-Q-BA

78 Autosomal Recessive Osteoporosis Type 1 S 79 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay ΒΑ

80 Autosomal recessive polycystic kidney disease MIM:263200, C0085548 QP-Q 81 Bardet-Biedl syndrome 1 MIM:209900 QP-Q-S-BA

82 Bardet-Biedl syndrome 10 MIM:209900 QP-Q-S-BA

83 Bardet-Biedl syndrome 11 MIM:615988 BA 84 Bardet-Biedl syndrome 12 S-BA

85 Bardet-Biedl syndrome 13 MIM:615990 BA MIM: 615991, 610188, 611134, 86 Bardet-Biedl syndrome 14;Joubert syndrome 5; Meckel syndrome 4; Senior-Loken syndrome 6 QP-BA 610181 87 Bardet-Biedl syndrome 2 MIM:209900 QP-Q-S-BA 88 Bardet-Biedl syndrome 4 ΒΑ 89 Bardet-Biedl syndrome 6 ΒΑ 90 Bardet-Biedl syndrome 9 ΒΑ 91 Bare Lymphocyte Syndrome, CIITA-Related ΒΑ

SAFEMBRYO 4 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test

92 Bare Lymphocyte Syndrome type II MIM:209920 Q-BA

93 Bartter syndrome , type 4a MIM: 602522 QP-Q-BA 94 Bernard-Soulier Syndrome, Type A2 ΒΑ 95 Bernard-Soulier Syndrome, Type B ΒΑ 96 Bernard-Soulier Syndrome, Type C ΒΑ 97 Beta-Hemoglobinopathies ΒΑ 98 Beta-Ketothiolase Deficiency ΒΑ 99 Beta-sarcoglycanopathy S 100 Beta-ureidopropionase deficiency ΒΑ 101 Bilateral Frontoparietal Polymicrogyria ΒΑ MIM:253260, MIM:609019, C022 102 Biotinidase deficiency QP-Q-S-BA 0754 103 Bjornstad syndrome MIM:262000 BA

104 Bloom syndrome MIM:210900 S-BA

105 Bothnia retinal dystrophy MIM:607475 BA

106 Brachydactyly MIM:615072, 112600, 113100 BA

107 Budd-Chiari syndrome MIM:600880 BA 108 Calpainopathy S 109 Canavan disease, mild MIM: 271900 QP-Q-S-BA

110 Carbamoylphosphate synthetase I deficiency MIM:237300 QP-S

111 Cardiomyopathy, dilated 1L MIM:606685 BA 112 Cardiomyopathy, dilated 1X MIM:611615 BA

113 Cardiomyopathy, dilated 3B MIM:302045 BA

SAFEMBRYO 5 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 114 Carnitine palmitoyltransferase I deficiency S-BA 115 Carnitine palmitoyltransferase II deficiency S-BA

116 Carnitine deficiency, systemic primary MIM:2121400 QP-Q-BA

117 Carnitine – acylcarnitine translocase deficiency MIM:212138 QP-BA

118 Carpenter syndrome MIM:201000 BA 119 Cartilage- Hair Hypoplasia MIM: 250250 Q-S-BA 120 Catecholaminergic polymorphic ventricular tachycardia ΒΑ 121 Cerebral creatine deficiency syndrome 1 MIM:300352 BA 122 Cerebral creatine deficiency syndrome 2 MIM:612736 BA

123 Cerebrotendinous xanthomatosis MIM:213700 QP-Q-S-BA

124 Ceroid lipofuscinosis neuronal 1 MIM:256730 Q-BA

125 Ceroid lipofuscinosis neuronal 10 MIM:610127 QP

126 Ceroid lipofuscinosis neuronal 2 MIM:204500, C1876161 Q-QP-BA

127 Ceroid lipofuscinosis neuronal 3 MIM:204200 QP-S-BA

128 Ceroid lipofuscinosis neuronal 5 MIM:256731, C1850442 QP-Q-S-BA

129 Ceroid lipofuscinosis neuronal , 6 MIM: 601780 QP-S-BA

130 Ceroid lipofuscinosis neuronal, 7 MIM:610951 QP-BA

131 Ceroid lipofuscinosis neuronal 8 MIM:600143, C1838570 QP-Q-BA

132 Ceroid lipofuscinosis type Kufs MIM:204300 BA

133 Charcot -Marie Tooth disease with deafness: X linked PRPS1 Related MIM:311070 Q-BA

134 Charcot-Marie Tooth disease, X-linked MIM:302800 Q-BA 135 Charcot-Marie Tooth disease type 4B1 MIM:601382 QP

136 Charcot-Marie Tooth disease type 4C MIM:601596 QP

SAFEMBRYO 6 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test

137 Charcot-Marie Tooth disease type 4D MIM:601455 QP-BA

138 Charcot-Marie Tooth disease type 5 ΜΙΜ¨311070 ΒΑ

139 Charcot -Marie Tooth Neuropathy Type 4A MIM:214400 QP 140 Chediak-Higashi syndrome ΒΑ

141 Cholestasis , progressive familial 2 MIM: 601847 BA

142 Cholestasis , benign recurrent intrahepatic, 2 MIM: 605479 QP-Q-BA

143 Chondrodysplasia, Grebe type MIM:200700 BA

144 Choreoacanthocytosis MIM:200150 BA

145 Choroidermia MIM:303100 BA 146 Chronic Granulomatous Disease, CYBA-Related ΒΑ 147 Chronic Granulomatous Disease, X-Linked ΒΑ 148 Ciliary Dyskinesia, Primary 1 ΒΑ 149 Ciliary Dyskinesia, Primary 3 ΒΑ 150 Ciliary Dyskinesia, Primary 9 ΒΑ 151 Ciliary Dyskinesia, Primary, 16 ΒΑ 152 Ciliopathies, RPGRIP1L-Related ΒΑ

153 Citrullinemia MIM:215700 QP-Q-S-BA

154 Citrullinemia adult-onset type II;type II neonatala-onset MIM: 603471, 605814 QP-BA 155 Cockayne syndrome, type A ΒΑ 156 Cockayne syndrome, type B ΒΑ

157 Coffin-Lowry syndrome MIM: 303600 QP 158 Cohen Syndrome MIM:216550 S-BA

159 Combined malonic and methylmalonic acidemia MIM: 614265 QP

SAFEMBRYO 7 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 160 Combined Malonic and Methylmalonic Aciduria ΒΑ 161 Combined Oxidative Phosphorylation Deficiency 1 ΒΑ 162 Combined Oxidative Phosphorylation Deficiency 3 ΒΑ 163 Combined Pituitary Hormone Deficiency 2 ΒΑ

164 Cone-rod dystrophy 3 MIM: 604116 QP

165 Cone-rod dystrophy 6 MIM:601777 BA

166 Cone-rod dystrophy 12 MIM:612657 BA

167 Cone-rod dystrophy 604393(Congenital Leber Amaurosis, 4) MIM: 604393 QP

168 Cone-rod dystrophy X-linked MIM:304020 QP 169 Congenital Adrenal Hyperplasia, 11-beta-hydroxylase-deficient ΒΑ 170 Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency ΒΑ 171 Congenital Adrenal Hyperplasia, 21-hydroxylase-deficient ΒΑ 172 Congenital Adrenal Hyperplasia, 21-hydroxylase-deficient ΒΑ 173 Congenital Adrenal Hypoplasia, X-linked ΒΑ 174 Congenital Amegakaryocytic Thrombocytopenia ΒΑ 175 Congenital Chloride Diarrhea ΒΑ 176 Congenital Hyperinsulinism, KCNJ11-Related ΒΑ 177 Congenital hypothyroidism ΒΑ 178 Congenital Insensitivity to Pain with Anhidrosis (CIPA) ΒΑ 179 Congenital Myasthenic Syndrome, CHRNE-Related ΒΑ 180 Congenital Myasthenic Syndrome, DOK7-Related ΒΑ 181 Congenital Myasthenic Syndrome, RAPSN-Related ΒΑ 182 Congenital Neutropenia, HAX1-Related ΒΑ

SAFEMBRYO 8 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 183 Congenital Neutropenia, VPS45-Related ΒΑ

184 Congenital Disorder of glycosylation Type 1a MIM: 212065 QP-Q-S-BA

185 Congenital Disorder of glycosylation Type 1b MIM: 602579 Q-S-BA

186 Congenital Disorder of glycosylation Type 1c MIM: 603147 Q-S-BA 187 Congenital Finnish Nephrosis S-BA 188 Corneal endothelial dystrophy MIM:217700,613268,217400 BA 189 Corneal Dystrophy and Perceptive Deafness ΒΑ

190 Corneal endothelial dystrophy and sensorineural deafness MIM:217400 QP 191 Corticosterone Methyloxidase Deficiency ΒΑ 192 Costeff-Optic Atrophy Syndrome S MIM: 101200,123500,101600, 193 Craniosynostosis, syndromic dominant BA 123790, 614592, 123150, 609579 194 Creatine Transporter Defect (Cerebral Creatine Deficiency Syndrome 1, X-Linked) ΒΑ

195 Crigler-Najjar syndrome, type I, II MIM:218800, 606785 BA

196 Crigler-Najjar syndrome, type I MIM:218800 Q

197 Cystathioninouria MIM:219500 QP-BA

198 Cystic fibrosis MIM:219700, C0010674 Q-S-BA

199 Cystic Fibrosis; Congenital bilateral absence of vas deferens MIM: 219700, 277180 QP

200 Cystinosis nephropathic MIM:219800,2119900 BA

201 Cystinosis non- nephropathic MIM:219750 BA 202 Cystinosis S

203 Cystinosis , atypical nephropathic MIMI:219800 QP-Q 204 Cystinuria MIM:220100 QP-BA

SAFEMBRYO 9 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 205 Cytochrome P450 oxidoreductase deficiency ΒΑ 206 Cytochrome-c oxidase deficiency ΒΑ 207 D-Bifunctional Protein Deficiency S-BA

208 Deafness autosomal recessive 12 MIM:601386 QP-BA

209 Deafness autosomal recessive 18A MIM:602092 QP-BA

210 Deafness autosomal recessive 23 MIM:609533 BA

211 Deafness, autosomal recessive 1A MIM:220290, C2673759 QP-Q-BA

212 Deafness, autosomal recessive 1b MIM:612645, C2675235 QP

213 Deafness, autosomal recessive 2 MIM:600060 BA

214 Deafness, autosomal recessive 3 MIM:600316 BA

215 Deafness, autosomal recessive 3a MIM:601544 BA

216 Deafness autosomal recessive 23 MIM:609533 QP 217 Deafness autosomal recessive 4, with enlarged vestibular aqueduct MIM:600791 QP-BA 218 Deafness, autosomal recessive 7 ΒΑ 219 Deafness, autosomal recessive 11 MIM:601317 BA 220 Deafness, autosomal recessive 16 ΒΑ 221 Deafness, autosomal recessive 77 ΒΑ 222 Deafness, X-linked 1 MIM:304500 BA 223 Delta-Sarcoglycanopathy S 224 Dent disease 2 MIM: 300555 QP 225 Desbuquois dysplasia 1 ΒΑ 226 Diabetes permanent neonatal MIM:606176 BA 227 Diabetes insulin-dependent, 2 MIM:125852 BA

SAFEMBRYO 10 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 228 Diabetes mellitus , neonatal, with congenital hypothyroidism MIM:610199 Q-BA 229 Diabetes , noninsulin-dependent, late onset MIM:125853 BA 230 Diabetes , noninsulin-dependent MIM:125853 BA 231 Diarrhea 1, secretory chloride, congenital MIM:214700 BA 232 Diastrophic dysplasia MIM:222600 Q-BA 233 Dihydrolipoamide dehydrogenase deficiency MIM: 246900,274270 QP-BA 234 Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency MIM:613571 BA 235 Dopa-responsive dystonia ΒΑ 236 Du Pan syndrome MIM: 228900 ΒΑ 237 Dubin-Johnson syndrome MIM: 237500 BA 238 Duchene muscular dystrophy; Becker muscular dystrophy MIM:310200,300376 QP-Q-S-BA 239 Dys/hypoprothrombinemia MIM:613679 BA 240 Dysautonomia, familial MIM:223900 BA 241 Dysferlinopathy S 242 Dyskeratosis, congenital MIM:615190 BA 243 Dysprothrombinemia MIM: 613679 QP 244 Distrophinopathies(including Duchenne/Becker muscular dystrophy) S 245 Dystrophic Epidermolysis Bullosa, COL7A1-Related ΒΑ 246 Ectodermal dysplasia 1, hypohidrotic MIM:305100 BA

247 Ehlers-Danlos syndrome type VI MIM:225400 QP

248 Ehlers-Danlos syndrome type VIIC MIM:225410 Q-BA 249 Ellis-van Creveld syndrome MIM: 225500 QP-Q-S-BA

250 Emery-Dreifuss muscular dystrophy 1 X-linked MIM:310300 Q-BA

SAFEMBRYO 11 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test

251 Emphysema due to Alpha1 Anti-Trypsin deficiency MIM:613490 QP-Q

252 Encephalopathy ethylmalonic MIM:602473 BA

253 Enhanced S-cone syndrome (Retinitis pigmentosa 37) MIM: 268100 Q-BA

254 Epidermolysis bullosa dystrophica MIM:132000, 226600,131750 BA

255 Epidermolysis bullosa dystrophica, modifier of MIM:226600 BA

256 Epidermolysis bullosa pretibial MIM:131850 BA

257 Epidermolysis bullosa pruriginosa MIM:604129 BA

258 Epidermolysis bullosa , generalized atrophic benign MIM:226650 BA

259 Epidermolysis bullosa transient of the newborn MIM:131705 BA

260 Epidermolysis bullosa, dystrophica, AR MIM: 226600 QP-Q

261 Epidermolysis bullosa, junctional, Herlitz type; non Herlitz type MIM: 226700, 226650 QP-Q-BA

262 Epilepsy X-linked, with variable learning disabilities and behavior disorders MIM:300491 QP

263 Epileptic encephalopathy, early infantile, 1 MIM:308350 QP

264 Epiphyseal dysplasia, multiple 4 MIM:226900 BA 265 ERCC6-Related Disorders S 266 ERCC8-Related Disorders S 267 Erythrokeratodermia variabilis et progressiva ΒΑ

268 Escobar syndrome MIM:265000 BA

269 Ethylmalonic encephalopathy MIM:602473 QP-Q-BA

270 Fabry disease MIM:301500 QP-Q-S-BA

271 Factor V deficiency MIM:227400 QP-Q-BA 272 Factor V Leiden thrombophilia MIM:188055 Q

SAFEMBRYO 12 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test

273 Factor XI deficiency,autosomal dominant & recessive MIM:612416 QP-BA 274 Familial dilated cardiomyopathy ΒΑ

275 Familial Mediterranean fever MIM:249100 QP-Q-S-BA 276 Familial dysautonomia S 277 Familial Hypercholesterolemia, LDLR-Related ΒΑ 278 Familial Hypercholesterolemia, LDLRAP1-Related ΒΑ 279 Familial Hyperinsulinism, ABCC8-Related ΒΑ 280 Familial Mediterranean Fever ΒΑ 281 Familial Nephrogenic Diabetes Insipidus, AQP2-Related ΒΑ

282 Fanconi anemia MIM:227650 QP-Q-S-BA

283 Fanconi anemia, complementation group A MIM:227650 S-BA

284 Fanconi anemia, complementation group C MIM:227645 QP-Q-S-BA

285 Fanconi anemia, complementation group G MIM:614082 BA

286 Fanconi anemia, complementation group J MIM:609054 BA

287 Favism MIM:134700 QP-BA 288 Fibrochondrogenesis type 2 ΒΑ 289 FKRP-Related disorders S 290 FKTN-Related disorders (including Walker-Warburg syndrome) S

291 Folate malabsorption,hereditary MIM:229050 QP

292 Fragile X syndrome MIM:300624 QP-Q-S-BA

293 Fragile X tremor/ataxia syndrome MIM:300623 BA 294 Friedreich ataxia with retained reflexes MIM:229300 QP 295 Fructose intolerance MIM:229600 QP-Q-BA

SAFEMBRYO 13 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test

296 Fumarase deficiency MIM:606812, C0342770 QP-Q-BA

297 Galactokinase deficiency with cataracts MIM:230200 QP-Q-BA 298 Galactokinase deficiency S

299 Galactose epimerase deficiency MIM:230350 QP-Q-BA

300 Galactosemia MIM:230400 QP-Q-S-BA 301 Gamma-Sarcoglycanopathy S

302 Gaucher disease,perinatal lethal MIM:608013 QP-S-BA

303 Gaucher disease types I and II MIM:230800, 230900 Q-BA 304 Geroderma osteodysplastica ΒΑ

305 Gitelman syndrome MIM:263800 BA 306 GJB2-Related DFNB1 Nonsyndromic hearing loss and deafness S 307 GLB1-Related disorders S 308 Glanzmann thrombasthenia ΒΑ

309 Glutamate formiminotransferase deficiency MIM:229100 QP 310 Glutaric acidemia type 1 S-BA

311 Glutaric acidemia IIA MIM: 231680 QP-Q-BA

312 Glutaric acidemia IIB MIM:231680 QP-Q-BA

313 Glutaric acidemia IIC MIM:231680 QP-Q-BA

314 Glutaricaciduria, type I MIM:231670 QP-Q

315 Glycine encephalopathy MIM:605899 QP-S-BA

316 Glycine N-methyltransferase deficiency MIM:606664 QP-BA 317 Glucose-6-Phosphate Dehydrogenase Deficiency* ΒΑ

318 Glycogen storage disease Ia MIM:232200 QP-BA

SAFEMBRYO 14 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test

319 Glycogen storage disease Ib MIM:232220 QP-Q-BA

320 Glycogen storage disease Ic MIM:232240 BA

321 Glycogen storage disease II/Pompe disease MIM:232300 QP-Q-BA 322 Glycogen storage disease III S-BA

323 Glycogen storage disease IIIa MIM:232400 QP-BA

324 Glycogen storage disease IV MIM: 232500 QP-BA 325 Glycogen Storage Disease, Type V (McArdle Disease) ΒΑ

326 Glycogen storage disease VII MIM:232800 BA 327 GM1 gangliosidosis type 1 MIM:230500 QP-Q-BA

328 GM1 gangliosidosis type 2 MIM:230600, C0268272 QP-Q-BA

329 GM1 gangliosidosis type 3 MIM: 230650 QP-BA

330 GM2 gangliosidosis,AB variant MIM:272750 BA 331 GM3 synthase deficiency ΒΑ 332 GNPTAB-Related disorders S

333 Goldman-Favre syndrome MIM:268100 QP

334 Gout/Phosphoribosylpyrophosphate synthetase superactivity MIM:300661 BA

335 GRACILE syndrome MIM:603358, C1864002 Q-S-BA

336 Granulomatous disease, chronic MIM:306400 BA 337 Grebe syndrome ΒΑ 338 Guanidinoacetate Methyltransferase Deficiency ΒΑ 339 HADHA-Related disorders(including long chain 3-hydroxyacyl-CoA Deyhdrogenase deficiency) S 340 Harlequin ichthyosis ΒΑ 341 HARP syndrome MIM:607236 QP

SAFEMBRYO 15 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 342 Hartnup disorder MIM:234500 QP 343 Hb beta chain -Related hemoglobinopathy(including beta thalassemia and sickle cell disease) S 344 Heimler syndrome type 1 MIM:234580 BA 345 Heimler syndrome type 2 MIM: 616617 QP-BA 346 Heme Oxygenase-1 Deficiency ΒΑ 347 Hemochromatosis MIM:235200 BA 348 Hemochromatosis type 2a MIM:602390 BA 349 Hemochromatosis type 3 MIM:604250 QP-BA 350 Hemochromatosis type 2A; HFE2 Related MIM:602390 QP-BA 351 Hemoglobin H disease MIM:613978 BA 352 Hemolytic anemia due to g6pd deficiency MIM:300908 BA 353 Hemophilia A MIM:306700 QP-BA 354 Hemophilia A, factor VIII deficiency, X-linked MIM:306700 Q 355 Hemophilia B MIM:306900 QP-BA 356 Hemophilia B, factor IX deficiency MIM:306900 Q 357 Hepatic carnitine palmitoyltransferase deficiency, type IA MIM:255120 BA 358 Hepatocerebral Mitochondrial DNA Depletion Syndrome, MPV17-Related ΒΑ 359 Hereditary Fructose intolerance S-BA 360 Hereditary Spastic Paraparesis, Type 49 ΒΑ 361 Herlitz junctional epidermolysis bullosa LAMA3-Related S-BA 362 Herlitz junctional epidermolysis bullosa LAMB3-Related S-BA 363 Herlitz junctional epidermolysis bullosa LAMC2-Related BA 364 Herlitz junctional epidermolysis bullosa LAMC3-Related S

SAFEMBRYO 16 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 365 Hermansky-Pudlak syndrome 1 MIM:203300 BA 366 Hermansky-Pudlak syndrome 3 MIM: 614072 Q-BA 367 Hermansky-Pudlak syndrome 4 ΒΑ 368 Hexosaminidase A deficiency, adult type(including Tay-Sachs disease) S 369 Histidinemia MIM: 235800 QP-BA 370 HMG-CoA lyase deficiency MIM: 246450 QP-Q-S 371 Holocarboxylase synthetase deficiency MIM:253270 QP-Q-S-BA 372 Homocystinuria due to MTHFR deficiency MIM:236250 QP-BA 373 Homocystinuria -megaloblastic anemia, cbl E type MIM: 236270 QP-BA 374 Homocystinuria -megaloblastic anemia, CBS type ΒΑ 375 Homocystinuria B6-responsive and nonresponsive types/Hyperhomocysteinemic thrombosis MIM:236200 QP-BA Homocystinuria cbID type variant 1/Methylmalonic aciduria and homocystinuria , cbID type/ Methylmalonic aciduria 376 MIM:277410, 277410, 611935 S cbID type variant 2 377 Homocystinuria caused by cystathionine beta-synthase deficiency S 378 Hydatidiform Mole, Recurrent ΒΑ 379 Hydrolethalus syndrome S-BA 380 Hydroxymethylglutaryl-coa lyase deficiency MIM:246450 BA 381 Hyper IgD syndrome; Mevalonic aciduria MIM: 260920, 610377 QP-BA 382 Hyperbilirubinemia, transient familial neonatal MIM:237900 BA 383 Hypercholesterolemia familial MIM: 143890 QP 384 Hypercholesterolemia familial, autosomal recessive MIM: 603813 QP 385 Hyperglycinemia encephalopathy MIM:605899 BA 386 Hyperglycinemia lactic acidosis and seizures MIM:614462 BA

SAFEMBRYO 17 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 387 Hyperinsulinemic hypoglycemia, familial 1 MIM:256450 BA 388 Hyperinsulinemic hypoglycemia, familial 2 MIM: 601820 QP-Q-BA 389 Hyperinsulinemic hypoglycemia, familial 3 MIM:602485 BA 390 Hyperlipidemia, familial combined MIM:144250 BA 391 Hypermethioninemia due to adenosine kinase deficiensy MIM: 614300 QP 392 Hypermethioninemia ΒΑ 393 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM: 613752 QP-BA

394 Hypermethioninemia persistent autosomal dominant due to methionine adenosyltransferase I/III deficiency MIM: 250850 QP

395 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome MIM:238970 BA 396 Hyperoxaluria primary type I MIM: 259900 QP-Q-BA 397 Hyperoxaluria primary type II MIM: 260000 QP-Q-BA 398 Hyperoxaluria primary type III MIM: 613616 QP-BA 399 Hyperoxaluria III MIM: 613616 Q 400 Hyperphenylalanemia MIM:261640 BA 401 Hyperphenylalanemia, BH4-deficient A MIM: 261640 QP 402 Hyperphenylalanemia, BH4-deficient C MIM: 261630 QP 403 Hyperphenylalanemia, BH4-deficient D MIM: 264070 QP 404 Hyperphosphatemic familial tumoral calcinosis ΒΑ 405 Hyperproinsulinemia MIM:616214 BA 406 Hyperprolinemia type II MIM: 239510 QP-Q-BA 407 Hypoaldosteronism, congenital due to cmo I and II deficiency MIM:203400, 610600 BA 408 Hypoidrotic Ectodermal dysplasia X-linked MIM: 305100 Q-BA

SAFEMBRYO 18 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 409 Hypoglycemia, infantile MIM:240800 BA 410 Hypogonadotropic hypogonadism 7 without anosmia MIM: 146110 QP

411 Hypophosphatasia MIM:146300, 241510,241500 BA

412 Hypophospatasia infantile MIM: 241500 Q 413 Hypophosphatasia autosomal recessive S 414 Hypospadias 1 MIM:300633 BA 415 Hypothyroidism, congenital due to thyroid dysgenesis or hypoplasia MIM:218700 BA 416 Hypothyroidism, congenital nongoitrous 4 MIM: 275100 QP-Q 417 Hypothyroidism, congenital resistant to TSH MIM:275200 BA 418 Hypothyroidism, congenital nongoitrous 1 MIM: 275200 QP-Q-BA 419 Icthyosis, congenital autosomal recessive 1 MIM: 242300 QP-BA 420 Immunodeficiency 34, mycobacteriosis MIM:300645 BA 421 Immunodeficiency, X-linked with hyper-IgM ΜΙM: 308230 QP 422 Inclusion Body myopathy 2 S-BA 423 Infantile sialic acid storage disease MIM:269920 BA 424 Infantile neuroaxonal dystrophy 1 ΒΑ 425 Isolated growth hormone deficiency, Type IA/II ΒΑ 426 Isolated growth hormone deficiency, Type IB ΒΑ 427 Isolated growth hormone deficiency, Type III, X-linked ΒΑ 428 Isovaleric acidemia MIM: 243500 QP-Q-S-BA 429 Joubert syndrome 2 MIM:608091, C1842577 QP-Q-S-BA 430 Joubert syndrome 3 MIM: 608629 QP

SAFEMBRYO 19 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 431 Joubert syndrome 4 MIM: 609583 QP 432 Joubert syndrome 5 MIM:610188 BA 433 Joubert syndrome 8 MIM: 612291 QP-BA 434 Joubert syndrome 28 MIM:617121 BA 435 Juvenile Nephronophthisis ΒΑ 436 Juvenile Retinoschisis, X-Linked ΒΑ 437 KCNJ11-Related familial hyperinsulinism S 438 Keratitis-ichthyosis-deafness, dominant MIM:148210, 602540 BA 439 Keratoderma, palmoplantar, with deafness MIM:148350 BA 440 Krabbe Disease MIM: 245200 QP-Q-S-BA 441 LADD syndrome MIM:149730 BA 442 LAMA2-Related muscular dystrophy S-BA 443 Laryngoonychocutaneous syndrome MIM: 245660 BA 444 Lamellar Ichthyosis, Type 1 ΒΑ 445 LCHAD deficiency MIM: 609016 QP 446 Leber congenital amaurosis 1 MIM:204000 QP-BA 447 Leber congenital amaurosis 13 MIM: 612712 QP-BA 448 Leber congenital amaurosis 2 MIM: 204100 QP-BA 449 Leber congenital amaurosis 5 MIM: 604537 QP-Q-BA 450 Leber congenital amaurosis 8 MIM: 613835 QP-BA 451 Leber Congenital Amaurosis, Type CEP290 ΒΑ 452 Leber Congenital Amaurosis, Type LCA5 ΒΑ 453 Leber Congenital Amaurosis, Type RDH12 ΒΑ

SAFEMBRYO 20 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 454 Leigh syndrome (due to COX deficiency) MIM:256000 QP-BA 455 Leigh syndrome French-Canadian type MIM: 220111 QP-Q-S-BA 456 Lethal Congenital Contracture Syndrome 1 ΒΑ 457 Leukoencephalopathy with Vanishing White Matter ΒΑ

458 Leydig cell hypoplasia with hypergonadotropic hypogonadism/pseudohermaphroditism/LH resistance (female) MIM:238320 BA

459 Limb-girdle muscular dystrophy type 2B MIM: 253601 QP-BA 460 Limb-girdle muscular dystrophy type 2I; Muscular dystrophy dystroglycanopathy MIM: 607155 Q-BA 461 Limb-Girdle Muscular Dystrophy, Type 2A ΒΑ 462 Limb-Girdle Muscular Dystrophy, Type 2C ΒΑ 463 Limb-Girdle Muscular Dystrophy, Type 2D ΒΑ 464 Limb-Girdle Muscular Dystrophy, Type 2E ΒΑ 465 Limb-Girdle Muscular Dystrophy, Type 2F ΒΑ 466 Lipase deficiency MIM:246650 BA 467 Lipoamid Dehydrogenase deficiency S 468 Lipoid adrenal hyperplasia MIM: 201710 QP-Q 469 Lipoid congenital adrenal hyperplasia MIM:201710 BA 470 Lipoprotein lipase deficiency MIM:238600 BA 471 Lissencephaly, X-linked MIM: 300067 QP 472 Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency ΒΑ 473 Lowe syndrome, X-Linked ΒΑ 474 Lysinuric protein intolerance MIM:222700 BA 475 Lysosomal Acid lipase deficiency S-BA

SAFEMBRYO 21 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 476 Macular degeneration juvenille MIM:248200 BA 477 Macular dystrophy 2 MIM:608051 BA 478 Macular dystrophy with central cone involvement MIM:616170 BA 479 Macular corneal dystrophy MIM:217800 QP 480 Malonyl-CoA decarboxylase deficiency MIM:248360 QP-BA 481 Mannosidosis alpha- types I and II MIM:248500 QP-BA 482 Mannosidosis beta- types I and II MIM:248500 BA 483 Maple syrup urine disease type 1A MIM:248600 QP-Q-S-BA 484 Maple syrup urine disease type 1B MIM:248600 QP-Q-S-BA 485 Maple syrup urine disease type 2 MIM:248600 QP-Q-S-BA 486 MASA syndrome/CRASH syndrome MIM:303350 QP 487 Mc Ardle disease/Glycogen Storage Disease type V MIM:232600 QP-Q-BA 488 Meckel Syndrome MIM:603194 BA 489 Meckel Syndrome 1 MIM: 249000 QP-BA 490 Meckel Syndrome 4 MIM:611134 BA 491 Medium chain Acyl-CoA dehydrogenase deficiency S-BA 492 Megalencephalic leukoencephalopathy with subcortical cysts S-BA 493 Megaloblastic Anemia Syndrome ΒΑ 494 Menkes disease MIM:309400 BA 495 Mental retardation and microcephaly with pontine and cerebellar hypoplasia MIM: 300749 QP 496 Mental retardation syndrome , X-linked , siderius type MIM:300263 QP 497 Mental retardation, autosomal recessive 3 ΒΑ 498 Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK) ΒΑ

SAFEMBRYO 22 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 499 Mental retardation , X-linked MIM:300486 QP 500 Mental retardation, X-linked 1/78 MIM:309530 QP 501 Mental retardation, X-linked 12/35 MIM:300957 QP 502 Mental retardation, X-linked 21/34 MIM:300143 QP 503 Mental retardation, X-linked 30/47 MIM:300558 QP 504 Mental retardation, X-linked 41 MIM:300849 QP 505 Mental retardation , X-linked 58 MIM:300210 QP 506 Mental retardation, X-linked 63 MIM:300387 QP 507 Mental retardation, X-linked 9 MIM:309549 QP 508 Mental retardation, X-linked 90 MIM:300850 QP 509 Mental retardation, X-linked 94 MIM:300699 QP 510 Mental retardation, X-linked 97 MIM:300803 QP 511 Mental retardation, X-linked 99 MIM:300919 QP 512 Mental retardation, X-linked syndromic 5 MIM:304340 QP 513 Mental retardation, X-linked syndromic, Raymond type MIM:300799 QP 514 Mental retardation, X-linked syndromic, Turner type MIM:300706 QP 515 Mental retardation, X-linked Asperger syndrome suceptibility, X-linked MIM:300427 QP 516 Mental retardation, X-linked FRAXE type MIM:309548 QP 517 Mental retardation, X-linked syndromic 13 MIM:300055 QP 518 Mental retardation, X-linked syndromic 14 MIM:300676 QP 519 Mental retardation, X-linked syndromic 15 MIM:300354 QP 520 Mental retardation, X-linked syndromic, Claes-Jensen type MIM:300534 QP 521 Metachromatic leukodystrophy MIM:250100 QP-Q-S-BA

SAFEMBRYO 23 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 522 Methionine adenosyltransferase I/ III deficiency MIM:280850 BA 523 Methylmalonic acidemia cbIA type S 524 Methylmalonic acidemia cbIB type S-BA 525 Methylmalonic aciduria and homocystinuria cbIC type MIM:277400 QP-Q-S-BA 526 Methylmalonic aciduria and homocystinuria cbID type MIM:277410 Q-BA 527 Methylmalonic aciduria and homocystinuria cbIF type MIM:277380 QP 528 Methylmalonic aciduria and homocystinuria cbIJ type MIM:614857 QP 529 Methylmalonic aciduria mut (0) type MIM:251000 QP-BA 530 Methylmalonic Aciduria, MMAA-Related ΒΑ 531 Methylmalonic Aciduria, MMAB-Related ΒΑ 532 Methylmalonic aciduria vitamin B12 responsive MIM:251100 QP-Q-BA 533 Methylmalonic aciduria vitamin B12 responsive responsive , due to defect in synthesis of adenosylcobalamin, cbIB complementationMIM: 251110 type QP 534 Methylmalonic -CoA epimerase deficiency MIM: 251120 QP-BA 535 Mevalonic aciduria MIM: 610377 Q-BA 536 Microcephaly, postnatal progressive, with seizures and brain atrophy ΒΑ 537 Microphthalmia/Anophthalmia, VSX2-Related ΒΑ 538 Micropthalmia isolated 3 MIM:611038 QP 539 MIRAGE syndrome ΒΑ 540 Mitochondrial ataxia rec. MIM:607459 BA 541 Mitochondrial complex I deficiency ΒΑ 542 Mitochondrial Complex I Deficiency, ACAD9-Related ΒΑ 543 Mitochondrial Complex I Deficiency, NDUFAF5-Related ΒΑ 544 Mitochondrial Complex I Deficiency, NDUFS6-Related ΒΑ

SAFEMBRYO 24 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 545 Mitochondrial complex III deficiency, nuclear type 1 MIM:124000 BA 546 Mitochondrial DNA depletion syndrome 4A MIM:203700 BA 547 Mitochondrial DNA depletion syndrome 4B MIM:613662 BA 548 Mitochondrial DNA depletion syndrome 5 ΒΑ 549 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM:256810 BA 550 Mitochondrial Myopathy and Sideroblastic Anemia (MLASA1) ΒΑ 551 Miyoshi muscular dystrophy 1 MIM:254130 BA 552 MKS1-Realted disorders S 553 Moderate combined immunodeficiency MIM:312863 BA 554 MODY type 10 MIM:613370 BA 555 MODY type 13 MIM:616329 BA 556 MODY-II MIM:125851 BA 557 Molybdenum cofactor deficiency ΒΑ 558 Mucolipidosis III alpha/beta, atypical C2673375 Q-BA 559 Mucolipidosis II and III, alpha/beta MIM:252500, 252600 QP-BA 560 Mucolipidosis III gamma S-BA 561 Mucolipidosis IV MIM: 252650 QP-Q-S-BA 562 Mucopolysaccharidosis type IIIA(Sanfilippo A) MIM: 252900 QP-Q-S 563 Mucopolysaccharidosis type I ( including Hurler Syndrome) MIM:607014 QP-Q-S-BA 564 Mucopolysaccharidosis type II QP-S 565 Mucopolysaccharidosis type II/Hunter Syndrome- X-linked MIMl 309900 Q-BA 566 Mucopolysaccharidosis, MPS-III-A (Sanfilippo A) MIM:252900 BA 567 Mucopolysaccharidosis, MPS-III-B (Sanfilippo B) MIM:252920 QP-S-BA

SAFEMBRYO 25 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 568 Mucopolysaccharidosis type III-C (Sanfilippo C) MIM:252930 QP-S-BA 569 Mucopolysaccharidosis type III-D MIM:252940 QP-BA 570 Mucopolysaccharidosis type IVA ΒΑ 571 Mucopolysaccharidosis type IVB(Morquio) MIM:253010 BA 572 Mucopolysaccharidosis type VI(Maroteauc-Lamy) MIM:253200 QP 573 Mucopolysaccharidosis type VII ΒΑ 574 Mulibrey nanism syndrome ΒΑ 575 Multiple congenital anomalies-hypotonia-seizures syndrome 1 ΒΑ 576 Multiple pterygium syndrome, lethal type MIM:253290 BA 577 Multiple sulfatase deficiency MIM:272200 BA 578 Multiple synostoses syndrome 2 MIM:610017 BA 579 Muscle eye brain disease BA 580 Muscular dystrophy- Becker type MIM:300376 BA 581 Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies) MIM:253280 QP-Q 582 Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies) type A,1 MIM:236670 QP-BA 583 Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies) type A,2 MIM:613150 QP 584 Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies) type A,3 MIM:253280 QP-BA 585 Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies) type A,4 MIM:253800 BA 586 Muscular dystrophy-dystroglycanopathy(congenital with brain and eye anomalies) type A,5 MIM: 613153 QP-BA 587 Muscular dystrophy-dystroglycanopathy type B1 MIM:613155 BA 588 Muscular dystrophy-dystroglycanopathy type B4 MIM:613152 BA 589 Muscular dystrophy-dystroglycanopathy type B5 MIM:606612 BA 590 Muscular dystrophy-dystroglycanopathy type C1 MIM:609308 BA

SAFEMBRYO 26 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 591 Muscular dystrophy-dystroglycanopathy type C4 MIM:611588 BA 592 Muscular dystrophy-dystroglycanopathy type C5 MIM:607155 BA 593 Muscular dystrophy , limb-girdle, type 2A MIM:253600 QP-BA 594 Muscular dystrophy , limb-girdle, type 2C MIM:253700 BA 595 Muscular dystrophy , limb-girdle, type 2D MIM:608099 QP-BA 596 Muscular dystrophy , limb-girdle, type 2E MIM:604286 QP-Q-BA 597 Muscular dystrophy , limb-girdle, type 2F MIM:601287 BA 598 Muscular dystrophy , limb-girdle, type 2H MIM:254110 BA 599 MUT-Related Methylmalonic acidemia S 600 Myasthenic syndrome, congenital 1A, slow-channel MIM:601462 BA 601 Myasthenic syndrome, congenital 1B, fast-channel MMIM:608930 BA 602 Myasthenic syndrome, congenital 3A, slow-channel MIM:616321 BA 603 Myasthenic syndrome, congenital 3B, fast-channel MIM:616322 BA 604 Myasthenic syndrome, congenital, 3C, acetylcholine receptor deficiency MIM:616323 BA 605 Myasthenic syndrome, congenital, 22 ΒΑ 606 MYO7A-Related Disorders S 607 Myoneurogastrointestinal Encephalopathy (MNGIE) ΒΑ 608 Myopathy due to myoadenylate deaminase deficiency MIM:612874, 615511 Q-BA 609 Myopathy congenital with fiber-type disproportion MIM:255310 BA 610 Myotubular myopathy X-linked MIM:310400 Q-BA 611 Myotonia congenita,dominant;recessive MIM:160800, 255700 QP 612 N-acetylglutamate Synthase Deficiency ΒΑ 613 NEB-Related Nemaline myopathy S-BA

SAFEMBRYO 27 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 614 Nemaline myopathy 2, autosomal recessive MIM:256030 QP-BA 615 Nemaline myopathy 3, congenital MIM:161800 BA 616 Neonatal diabetes MIM:606176 BA 617 Nephrotic syndrome , type 1 MIM:256300 BA-QP 618 Nephrotic syndrome , type 2 MIM:600995 BA 619 Neu-laxova syndrome 1 MIM:256520 BA 620 Neutropenia, severe congenital 3, autosomal recessive MIM:610738 QP-Q-BA 621 Neutropenia, severe congenital 5, autosomal recessive MIM:615285 BA 622 Neuroblastoma MIM:256700 BA 623 Niemann-Pick disease type C1/D MIM:257220, C3179455 QP-Q-S-BA 624 Niemann-Pick disease type C2 MIM:607625, C1843366 QP-Q-S-BA 625 Niemann-Pick disease, type A/B MIM:257200, C0268242 QP-BA 626 Niemann-Pick Disease , type B MIM:607616 Q-BA 627 Niemann-Pick Disease , SMPD1-Associated S 628 Nijmegen Breakage Syndrome( Ataxia telangectasia type 1) MIM: 251260 QP-S-BA 629 Non-Syndromic Hearing Loss (a.k.a. Connexin 26) ΒΑ 630 Non-Syndromic Hearing Loss (a.k.a. Connexin 30) ΒΑ 631 Nonaka myopathy MIM:605820 BA 632 Norrie Disease MIM:310600 QP 633 Northen Epilepsy S 634 Nystagmus 6, congenital, X-linked MIM: 300814 QP 635 Occipital horn syndrome MIM:304150 BA 636 Oculocutaneous Albinism, Type 1 ΒΑ

SAFEMBRYO 28 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 637 Oculocutaneous albinism, Type 3 ΒΑ 638 Oculocutaneous albinism, Type 4 ΒΑ 639 Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome ΒΑ 640 Omenn syndrome MIM:274600 BA 641 Optic atrophy 3 with cataratct MIM:165300 BA 642 Ornithine Aminotransferase Deficiency ΒΑ 643 Ornithine transcarbamylase deficiency MIM: 311250 QP-S-BA 644 Osteogenesis imperfecta, type VIII MIM: 610915 QP 645 Osteopetrosis, Infantile Malignant, TCIRG1-Related ΒΑ 646 OTC deficiency/ Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM: 238970 Q 647 Panhypopituitarism MIM:262600 BA 648 Pantothenate Kinase-Associated Neurodegeneration ΒΑ 649 Papillon-Lefevre Syndrome ΒΑ 650 PCCA-Related Propionic Acidemia S 651 PCCB-Related Propionic Acidemia S 652 PCDH15-Related disorders( including Usher Syndrome, Type 1F) S 653 Pelizaeus-Merzbacher disease MIM: 312080 QP 654 Pendred's syndrome MIM:274600, C0271829 Q-S-BA 655 Peroxisomal acyl-CoA oxidase deficiency MIM:264470 QP-Q-BA 656 Peroxisome biogenesis disorder 1A (Zellweger) MIM: 214100 QP-BA 657 Peroxisome biogenesis disorder 1B MIM:601539 BA 658 Peroxisome biogenesis disorder 3 S 659 Peroxisome biogenesis disorder 3a ΒΑ

SAFEMBRYO 29 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 660 Peroxisome biogenesis disorder 4 MIM:614862, 614863 S-BA 661 Peroxisome biogenesis disorder 5 MIM:614866, 614867 S-BA 662 Peroxisome biogenesis disorder 6 MIM:614866, 614870 S-BA 663 Peroxisome biogenesis disorder 6A (Zellweger) MIM: 614870 QP 664 Peroxisome biogenesis disorder 9B;Rhizomelic chondroplasia punctata, type I MIM: 614879;215100 QP-BA 665 Perrault syndrome 1 MIM:233400 BA 666 Persistent Mullerian duct syndrome, type I/II MIM:261550 BA 667 PEX1-Related Zellweger syndrome spectrum S 668 Phenylalanine Hydroxylase deficiency S 669 Phenylketonuria MIM: 261600 QP-Q-BA 670 Phosphoglycerate deyhdrogenase deficiency MIM:601815 BA 671 PKHD1-Related Autosomal recessive polycystic kidney disease S-BA 672 POLG-Related Disorders ΒΑ 673 Polycystic kidney and hepatic disease MIM:263200 BA 674 Polyglandular autoimmune syndrome, type 1 S 675 Polyglucosan body neuropathy, adult form MIM:263570 BA 676 Pontocerebellar hypoplasia ΒΑ 677 Pontocerebellar hypoplasia, type 2D MIM:613811 BA 678 Pontocerebellar hypoplasia, type 1-6 ΒΑ 679 Pontocerebellar hypoplasia, type 1a ΒΑ 680 Pontocerebellar hypoplasia, type 1b ΒΑ 681 Pontocerebellar hypoplasia, type 2e ΒΑ 682 Poroceratosis 3 MIM:175900 BA

SAFEMBRYO 30 από 37 LIST OF DISORDERS-ΔΙΕΥΡΥΜΕΝΟΣ ΕΛΕΓΧΟΣ ΦΟΡΕΩΝ

A/A Condition/Phenotype Identifier Test 683 Postanesthesia apnea BA 684 Premature ovarian failure MIM:311360 BA 685 PPT1-Realted Neuronal ceroid lipofuscinosis S 686 Primary carnitine deficiency S 687 Primary Congenital Glaucoma ΒΑ 688 Primary hyperoxaluria, type I S 689 Primary hyperoxaluria, type 2 S-BA 690 Primary hyperoxaluria , type 3 S-BA 691 Progressive external opthalmoplegia dom.1 MMIM:157640 BA 692 Progressive external opthalmoplegia rec.1 MIM:258450 BA 693 Progressive Familial Intrahepatic Cholestasis, Type 1 ΒΑ 694 Progressive Familial Intrahepatic Cholestasis, Type 2 ΒΑ 695 Progressive Familial Intrahepatic Cholestasis, Type 3 ΒΑ 696 Progressive Pseudorheumatoid Dysplasia ΒΑ 697 PROP1-Related combined pituitary hormone deficiency S 698 Prolidase deficiency ΒΑ 699 Propionic acidemia MIM:606054 QP-Q-BA 700 Prothrombin deficiency ΒΑ 701 Pseudocholinesterase Deficiency ΒΑ 702 Pseudohermaphroditism, male, with gynecomastia MIM:264300 BA 703 Pseudovaginal perineoscrotal hypospadias MIM:264600 BA 704 Pseudoxanthoma elasticum ΒΑ 705 Pycnodysostosis MIM:265800 Q-S-BA

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A/A Condition/Phenotype Identifier Test 706 Pyridoxal 5'-phosphate-dependent epilepsy ΒΑ 707 Pyridoxine-dependent epilepsy ΒΑ 708 Pyruvate carboxylase deficiency S-BA 709 Pyruvate dehydrogenase E1-alpha deficiency: X-linked MIM:312170 Q-S-BA 710 Pyruvate dehydrogenase E1-beta deficiency MIM:614111 Q-S-BA 711 Renal Tubular Acidosis and Deafness, ATP6V1B1-Related ΒΑ 712 Renpenning syndrome MIM:309500 QP 713 Retinal Dystrophies, RLBP1-Associated ΒΑ 714 Retinitis pigmentosa 2 MIM:312600 QP-BA 715 Retinitis pigmentosa 25 MIM:602772 QP-BA 716 Retinitis pigmentosa 26 MIM:608380, C1842127 QP-BA 717 Retinitis pigmentosa 28 ΒΑ 718 Retinitis pigmentosa 37 MIM:61131 BA 719 Retinitis pigmentosa 39 MIM:613809, C3151138 QP 720 Retinitis pigmentosa 41 MIM:612095 BA 721 Retinitis pigmentosa 43 MIM:613810 QP 722 Retinitis pigmentosa 45 MIM:613767 QP 723 Retinitis pigmentosa 46 MIM:612572 QP 724 Retinitis pigmentosa 49 MIM:613756 QP 725 Retinitis pigmentosa 59 MIM:613861, C3151227 QP-BA 726 Retinitis pigmentosa 61 MIM:614180 BA 727 Retinitis pigmentosa 73 MIM:616544 BA 728 Retinitis pigmentosa 74 MIM:616562 BA

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A/A Condition/Phenotype Identifier Test 729 Retinitis pigmentosa 76 MIM:617123 BA 730 Retinitis punctata albescens MIM:136880 BA 731 RETT Syndrome ΒΑ 732 Retinoschisis, X-linked MIM:312700 QP-BA 733 Rhizomelic chondrodysplasia punctata type 1 MIM:215100 Q-S-BA 734 Roberts Syndrome ΒΑ 735 Rhizomelic chondrodysplasia punctata type 3 MIM:600121 QP-BA 736 RTEL1-Related disorders S 737 Salla disease MIM:604369, C1096903 Q-S-ΒΑ 738 Sandhoff disease, infantile,juvenile, and adult forms MIM:268800 QP-S-ΒΑ 739 SCID, autosomal recessive, T-negative/B-positive type MIM:600802 QP 740 Segawa syndrome, autosomal recessive MIM:605407, C1854299 QP-S-ΒΑ 741 Segawa syndrome , recessive (tyrosine hydroxylase deficiency) MIM:605407 Q-ΒΑ 742 Senior-Loken syndrome 6 MIM:610189 BA 743 Sensorineural deafness with renal dysfunction (Bartter syndrome type 4a) MIM:602522 BA 744 Severe combined immunodeficiency due to ADA deficiency MIM:102700 QP-BA 745 Severe combined immunodeficiency, X-;linked MIM:300400 QP-Q-BA 746 Severe combined immunodeficiency, Athabaskan-type MIM:602450 BA 747 Schimke Immunoosseous Dysplasia ΒΑ 748 Short chain Acyl-CoA deyhdrogenase deficiency S-BA 749 Shortbranched chain Acyl-CoA deyhdrogenase ΒΑ 750 Shwachman-Diamond syndrome ΒΑ 751 Sialidosis ΒΑ

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A/A Condition/Phenotype Identifier Test 752 Sialuria MIM:269921 BA 753 Sickle cell anemia MIM:603903 BA 754 Sjogren-Larsson syndrome MIM:270200 Q-S-BA 755 Skin/hair/eye pigmentation variation in 5 MIM:227240 BA 756 Smith-Lemli-Opitz syndrome MIM:270400, C0175694 Q-S-BA 757 Spastic ataxia Charlevoix-Saguenay type MIM:270550, C1849140 QP-Q-BA 758 Spastic paraplegia 11, autosomal recessive MIM:604360 QP 759 Spastic paraplegia 7, autosomal recessive MIM:607259 QP 760 Spastic paraplegia 15, autosomal recessive S-BA 761 Spinal and bulbar muscular atrophy of Kennedy MIM:313200 BA MIM:253300,253550,253400, 762 Spinal muscle atrophy (several types) QP-BA-S 271150 763 Spinal muscle atrophy distal MIM:300489 BA 764 Spinocerebellar ataxia 7 MIM:609270 BA 765 Spondylothoracic dysostosis S-BA 766 Stargardt desease 1 ΒΑ 767 Stargardt desease 4 MIM:603786 BA 768 Steroid-Resistant nephrotic syndrome S-BA 769 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome MIM:601559 BA 770 Sulfate transporter-related osteochondrodysplasia S 771 Tay-Sachs disease; GM2-gangliosidosis, several forms MIM:272800, C0039373 QP-BA 772 TGM1-Related autosomal recessive congenital icthyosis S 773 Thalassemias, alpha- MIM:604131 QP

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A/A Condition/Phenotype Identifier Test 774 Thalassemias, beta- MIM:613985, C0005283 QP 775 Thrombocytopenia, congenital amegakaryocytic MIM: 604498 QP 776 Thrombophilia due to protein C resistance MIM:188055 BA 777 Thrombophilia due to IX defect MIM:300807 BA 778 Thrombophilia MIM:188050 BA 779 Thyroid dyshormonogenesis 6 MIM:607200 QP-BA 780 Thyroid dyshormonogenesis 1 MIM:274400 QP-BA 781 Thyroid dyshormonogenesis 2A MIM: 274500 QP-BA 782 Thyroid dyshormonogenesis 3 MIM:274700 QP-BA 783 Thyroid dyshormonogenesis 4 MIM:274800 QP-BA 784 Thyroid dyshormonogenesis 5 MIM:274900 QP-BA 785 Thyroid hormone resistance MIM:274700 QP 786 Tooth agenesis selective MIM:313500 BA 787 Treacher Collins syndrome 3 MIM:248390 QP 788 Tricho-Hepato-Enteric Syndrome ΒΑ 789 Trifunctional protein deficiency MIM:609015 QP-BA 790 TPP1-Related neuronal ceroid lipofuscinosis S 791 Tyrosinemia type I MIM:276700, C0268490 QP-Q-S-BA 792 Tyrosinemia type II MIM:276600 QP-ΒΑ 793 Tyrosinemia type IIΙ ΒΑ 794 Usher syndrome, type 1B; Deafness, autosomal dominant 11 MIM:276900;601317 QP-BA 795 Usher syndrome, type 1C MIM:276904 BA 796 Usher syndrome, type 1D/F digenic MIM:601067 BA

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A/A Condition/Phenotype Identifier Test 797 Usher syndrome , type 1F MIM:602083 BA 798 Usher syndrome , type 1G MIM:606943 QP 799 Usher syndrome , type IIA MIM:276901 BA 800 Usher syndrome , type III ΒΑ 801 Usher syndrome , type IIIA MIM:276902 BA 802 Usher syndrome , type 2D/Deafness, autosomal recessive 31 MIM:611383 QP 803 Usher syndrome, type 3A MIM:276902 QP-S 804 USH1C-Related disorders S 805 USH2A-Related disorders S 806 Vas deferens, congenital bilateral aplasia of MIM:277180 BA 807 Ventricular tachycardia,catecholaminergic polymorphic, 2 MIM:611938 QP 808 Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness MIM:615441 QP MIM:201460, MIM:201475, 809 Very long chain acyl-CoA dehydrogenase deficiency S-ΒΑ C3887523 810 Vitamin D-dependent rickets type 1A ΒΑ 811 VLCAD deficiency MIM:201475 QP-Q 812 Von Willebrand disease, type 1 MIM:193400 BA 813 Von Willebrand disease, type 2A,2B,2M,2N MIM:613554 BA 814 Von Willebrand disease, type 3 MIM:277480 BA 815 Walker-Warburg Syndrome, FKTN-Related ΒΑ Walker-Warburg syndrome, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 816 MIM:253800 QP A,4 817 Werner syndrome MIM:277700 BA 818 Weyers acrofacial dysostosis MIM:193530 BA

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A/A Condition/Phenotype Identifier Test 819 Wilson disease MIM:277900, C0019202 QP-Q-S-ΒΑ 820 Wiskott-Aldrich syndrome, X-Linked ΒΑ 821 Wolcott-Rallison Syndrome ΒΑ 822 Woolly Hair/Hypotrichosis Syndrome ΒΑ 823 Wolman disease (lysosomal acid lipase deficiency) CN438428 QP 824 Zellweger syndrome MIM:214100, C0043459 QP-Q 825 Xeroderma pigmentosum , Group A S-ΒΑ 826 Xeroderma pigmentosum , Group C S-ΒΑ 827 Xeroderma Pigmentosum Group D ΒΑ 828 Xeroderma Pigmentosum Group E ΒΑ 829 Xeroderma Pigmentosum Group F ΒΑ 830 Xeroderma pigmentosum Group G ΒΑ 831 Xeroderma pigmentosum Variant ΒΑ 832 X-linkedmental retardation (XLMR) associated with macrocephaly MIM:300659 QP

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