Genes4Life - Genelist
Carrier Screening Test
| # | Condition | Gene |
|---|---|---|
| 1 | 17-Beta-Hydroxysteroid Dehydrogenase Deficiency, Type III | HSD17B3 |
| 2 | 2-Methylbutyryl-CoA Dehydrogenase Deficiency | ACADSB |
| 3 | 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasi | CYP21A2 |
| 4 | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | HMGCL |
| 5 | 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | HADH |
| 6 | 3-Hydroxyisobutryl-CoA Hydrolase Deficiency | HIBCH |
| 7 | 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency | MCCC1 |
| 8 | 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency | MCCC2 |
| A | ||
| 9 | AICA-Ribosiduria | ATIC |
| 10 | Abetalipoproteinemia | MTTP |
| 11 | Achalasia-Addisonianism-Alacrimia Syndrome | AAAS |
| 12 | Achondrogenesis, Type 1B | SLC26A2 |
| 13 | Achromatopsia CNGB3-Related | CNGB3 |
| 14 | Acrodermatitis Enteropathica | SLC39A4 |
| 15 | Acute Infantile Liver Failure, TRMU-Related | TRMU |
| 16 | Adenosine Deaminase Deficiency | ADA |
| 17 | Adrenal Hyperplasia | HSD3B2 |
| 18 | Adrenal Hyperplasia V | CYP17A1 |
| 19 | AdrenoleukoDystrophy | ABCD1 |
| 20 | Aicardi-Goutieres Syndrome 1 | TREX1 |
| 21 | Aicardi-Goutieres syndrom (AGS) | RNASEH2A |
| 22 | Aicardi-Goutieres syndrom (AGS) | RNASEH2B |
| 23 | Aicardi-Goutieres syndrom (AGS) | RNASEH2C |
| 24 | Aicardi-Goutieres syndrom (AGS) | SAMHD1 |
| 25 | Albinism, Oculocutaneous, Type I | TYR |
| 26 | Albinism, Oculocutaneous, Type II | OCA2 |
| 27 | Albinism, Oculocutaneous, Type III | TYRP1 |
| 28 | Albinism, Oculocutaneous, Type IV | SLC45A2 |
| 29 | Albinism, Oculocutaneous, Type VII | LRMDA |
| 30 | Alkaptonuria | HGD |
| 31 | Alpers Syndrome | POLG |
| 32 | Alpha thalassemia | HBA1 |
| 33 | Alpha thalassemia | HBA2 |
| 34 | Alpha-Mannosidosis | MAN2B1 |
| 35 | Alpha-Methylacetoacetic Aciduria | ACAT1 |
| 36 | Alpha-N-Acetylgalactosaminidase Deficiency, Type 1 (Schindler Disease) | NAGA |
| 37 | Alport Syndrome, COL4A3-Related | COL4A3 |
| 38 | Alport Syndrome, COL4A4-Related | COL4A4 |
| 39 | Alport Syndrome, COL4A5-Related | COL4A5 |
| 40 | Alstrom Syndrome | ALMS1 |
| 41 | Amish Infantile Epilepsy Syndrome | ST3GAL5 |
| 42 | Argininosuccinic Aciduria | ASL |
| 43 | Aromatic L-amino acid Decarboxylase Deficiency | DDC |
| 44 | Arthrogryposis, Mental Retardation and Seizures | SLC35A3 |
| 45 | Arthrogryposis, Renal Dysfunction and Cholestasis 1 | VPS33B |
| 46 | Asparagine Synthetase Deficiency | ASNS |
| 47 | Aspartylglycosaminuria | AGA |
| 48 | Ataxia | TTPA |
| 49 | Ataxia Telangiectasia | ATM |
| B | ||
| 50 | Bardet-Biedl Syndrome 1 | BBS1 |
| 51 | Bardet-Biedl Syndrome 10 | BBS10 |
| 52 | Bardet-Biedl Syndrome 11 | TRIM32 |
| 53 | Bardet-Biedl Syndrome 12 | BBS12 |
| 54 | Bardet-Biedl Syndrome 13 / Meckel-Gruber Syndrome 1 / Joubert Syndrome 28 | MKS1 |
| 55 | Bardet-Biedl Syndrome 16 | SDCCAG8 |
| 56 | Bardet-Biedl Syndrome 17 | LZTFL1 |
| 57 | Bardet-Biedl Syndrome 18 | BBIP1 |
| 58 | Bardet-Biedl Syndrome 19 | IFT27 |
| 59 | Bardet-Biedl Syndrome 2 | BBS2 |
| 60 | Bardet-Biedl Syndrome 20 | IFT172 |
| 61 | Bardet-Biedl Syndrome 3 | ARL6 |
| 62 | Bardet-Biedl Syndrome 4 | BBS4 |
| 63 | Bardet-Biedl Syndrome 5 | BBS5 |
| 64 | Bardet-Biedl Syndrome 6 | MKKS |
| 65 | Bardet-Biedl Syndrome 7 | BBS7 |
| 66 | Bardet-Biedl Syndrome 8 | TTC8 |
| 67 | Bardet-Biedl Syndrome 9 | BBS9 |
| 68 | Bardet-Biedl syndrome 21 / Cone-Rod Dystrophy 16 / Retinitis Pigmentosa 64 | C8orf37 |
| 69 | Bartter Syndrome | BSND |
| 70 | Bernard-Soulier Syndrome, Type A1 | GP1BA |
| 71 | Bernard-Soulier Syndrome, Type C | GP9 |
| 72 | Beta-Thalassemia | HBB |
| 73 | Bile Acid Synthesis Defect, Type 4 | AMACR |
| 74 | Biotinidase Deficiency | BTD |
| 75 | Blomstrand Chondrodysplasia | PTH1R |
| 76 | Bloom Syndrome | BLM |
| 77 | Brittle Cornea Syndrome 1 | ZNF469 |
| C | ||
| 78 | CPT II Deficiency, Infantile | CPT2 |
| 79 | Canavan Disease | ASPA |
| 80 | Carbamoyl-Phosphate Synthetase 1 Deficiency | CPS1 |
| 81 | Carnitine Deficiency | SLC22A5 |
| 82 | Carnitine Palmitoyltransferase Deficiency, Type 1A | CPT1A |
| 83 | Carnitine-acylcarnitine Translocase Deficiency | SLC25A20 |
| 84 | Carpenter Syndrome | RAB23 |
| 85 | Cartilage-Hair Hypoplasia | RMRP |
| 86 | Cerebellar Hypoplasia and Mental Retardation | VLDLR |
| 87 | Cerebellar Hypoplasia, Type 1 | EXOSC3 |
| 88 | Cerebral Creatine Deficiency Syndrome 2 | GAMT |
| 89 | Cerebral Dysgenesis, Neuropathy, Ichthyosis and Palmoplantar Keratoderma Syndrome | SNAP29 |
| 90 | Cerebrotendinous Xanthomatosis | CYP27A1 |
| 91 | Ceroid Lipofuscinosis | MFSD8 |
| 92 | Ceroid Lipofuscinosis | CLN8 |
| 93 | Charcot-Marie-Tooth Disease, Type 2B1 | LMNA |
| 94 | Charcot-Marie-Tooth Disease, Type 2EE | MPV17 |
| 95 | Charcot-Marie-Tooth Disease, Type 2S | IGHMBP2 |
| 96 | Charcot-Marie-Tooth Disease, Type 4F | PRX |
| 97 | Charcot-Marie-Tooth Disease, Type 4H | FGD4 |
| 98 | Choreoacanthocytosis | VPS13A |
| 99 | Choroideremia | CHM |
| 100 | Chronic Granulomatous Disease 1 | NCF1 |
| 101 | Chronic Granulomatous Disease 4 | CYBA |
| 102 | Ciliary Dyskinesia, Type 1 | DNAI1 |
| 103 | Ciliary Dyskinesia, Type 9 | DNAI2 |
| 104 | Citrin Deficiency | SLC25A13 |
| 105 | Citrullinemia, Type 1 | ASS1 |
| 106 | Classical homocystinuria | CBS |
| 107 | Coenzyme Q10 Deficiency, Type 2 | PDSS1 |
| 108 | Coenzyme Q10 Deficiency, Type 4 | COQ8A |
| 109 | Cohen Syndrome | VPS13B |
| 110 | Cold-induced Sweating Syndrome 1 | CRLF1 |
| 111 | Colobomatous Microphthalmia | STRA6 |
| 112 | Combined Malonic and Methylmalonic Aciduria | ACSF3 |
| 113 | Combined Oxidative Phosphorylation Deficiency 1 | GFM1 |
| 114 | Combined Oxidative Phosphorylation Deficiency 3 | TSFM |
| 115 | Cone-Rod Dystrophy and Hearing Loss 2 | CEP250 |
| 116 | Congenital Adrenal Hyperplasia, 11-b hydroxylase | CYP11B1 |
| 117 | Congenital Amegakaryocytic Thrombocytopenia | MPL |
| 118 | Congenital Disorder of Glycosylation, Type 1a | PMM2 |
| 119 | Congenital Disorder of Glycosylation, Type II | B4GALT1 |
| 120 | Congenital Disorder of Glycosylation, Type IIb | MOGS |
| 121 | Congenital Disorder of Glycosylation, Type Ib | MPI |
| 122 | Congenital Disorder of Glycosylation, Type Ic | ALG6 |
| 123 | Congenital Disorder of Glycosylation, Type Ie | DPM1 |
| 124 | Congenital Disorder of Glycosylation, Type Iia | MGAT2 |
| 125 | Congenital Disorder of Glycosylation, Type Iic | SLC35C1 |
| 126 | Congenital Disorder of Glycosylation, Type Iif | SLC35A1 |
| 127 | Congenital Disorder of Glycosylation, Type Ik | ALG1 |
| 128 | Congenital Erythropoietic Porphyria | UROS |
| 129 | Congenital Hypothyroidism | TSHR |
| 130 | Congenital Insensitivity to pain with Anhidrosis | NTRK1 |
| 131 | Congenital Myasthenic Syndrome 4B | CHRNE |
| 132 | Congenital Non-Bullous Ichthyosiform Erythroderma | ABCA12 |
| 133 | Congenital Thrombotic Thrombocytopenic Purpura | ADAMTS13 |
| 134 | Corneal Endothelial Dystrophy | SLC4A11 |
| 135 | Corpus Callosum Agenesis-Neuronopathy Syndrome | SLC12A6 |
| 136 | Costeff Syndrome | OPA3 |
| 137 | Cutis Laxa Classic, Type 2 | ATP6V0A2 |
| 138 | Cutis Laxa, Type IA | FBLN5 |
| 139 | Cutis Laxa, Type IB | EFEMP2 |
| 140 | Cystic Fibrosis | CFTR |
| 141 | Cystinosis | CTNS |
| 142 | Cystinuria | SLC3A1 |
| D | ||
| 143 | Deafness 53 | COL11A2 |
| 144 | Deafness 77 | LOXHD1 |
| 145 | Desmosterolosis | DHCR24 |
| 146 | Dihydropyrimidine Dehydrogenase Deficiency | DPYD |
| 147 | Distal Renal Tubular Acidosis | ATP6V1B1 |
| 148 | Donnai-Barrow Syndrome | LRP2 |
| 149 | Dopa-Responsive Dystonia | TH |
| 150 | Duchenne Muscular Dystrophy | DMD |
| 151 | Dysplasminogenemia | PLG |
| E | ||
| 152 | Ehlers-Danlos Syndrome, Cardiac Valvular Type | COL1A2 |
| 153 | Ehlers-Danlos Syndrome, Dermatosparaxis Type | ADAMTS2 |
| 154 | Ellis-van Creveld Syndrome | EVC2 |
| 155 | Ellis-van Creveld Syndrome | EVC |
| 156 | Emery-Dreifuss Muscular Dystrophy | FHL1 |
| 157 | Emphysema | SERPINA1 |
| 158 | Epidermolysis Bullosa, Type 1 | LAMB3 |
| 159 | Epidermolysis Bullosa, Type 2 | LAMA3 |
| 160 | Epidermolysis Bullosa, Type 3 | LAMC2 |
| 161 | Epidermolysis Bullosa, Type 4 | COL17A1 |
| 162 | Epidermolysis Bullosa, Type 5 | ITGB4 |
| 163 | Epidermolysis Bullosa, Type 6 | ITGA6 |
| 164 | Ethylmalonic Encephalopathy | ETHE1 |
| F | ||
| 165 | Fabry Disease | GLA |
| 166 | Factor IX Deficiency | F9 |
| 167 | Factor VIII Deficiency | F8 |
| 168 | Factor XI Deficiency | F11 |
| 169 | Familial Chloride Diarrhea | SLC26A3 |
| 170 | Familial Dysautonomia | ELP1 |
| 171 | Familial Hyperinsulinemic Hypoglycemia | ABCC8 |
| 172 | Familial Hyperinsulinism | KCNJ11 |
| 173 | Familial Mediterranean Fever | MEFV |
| 174 | Fanconi Anemia, Group C | FANCC |
| 175 | Fanconi Anemia, Group G | FANCG |
| 176 | Fanconi Anemia, Troup A | FANCA |
| 177 | Fetal Akinesia Deformation Sequence | RAPSN |
| 178 | Fragile X Syndrome | FMR1 |
| 179 | French Canadian Type of Leigh Syndrome | LRPPRC |
| 180 | Fucosidosis | FUCA1 |
| 181 | Fuhrmann Syndrome | WNT7A |
| 182 | Fumarase Deficiency | FH |
| G | ||
| 183 | GRACILE Syndrome | BCS1L |
| 184 | Galactokinase Deficiency, Type II | GALK1 |
| 185 | Galactosemia | GALT |
| 186 | Gaucher Disease | GBA |
| 187 | Gitelman Syndrome | SLC12A3 |
| 188 | Glutaric Acidemia IIA | ETFA |
| 189 | Glutaric Acidemia IIC | ETFDH |
| 190 | Glutaric Acidemia, Type 1 | GCDH |
| 191 | Glycine Encephalopathy | GLDC |
| 192 | Glycogen Storage Disease VII | PFKM |
| 193 | Glycogen Storage Disease, Type 1A | G6PC1 |
| 194 | Glycogen Storage Disease, Type 2 (Pompe Disease) | GAA |
| 195 | Glycogen Storage Disease, Type 3 | AGL |
| 196 | Glycogen Storage Disease, Type 4 | GBE1 |
| 197 | Glycogen Storage Disease, Type B | SLC37A4 |
| 198 | Greenberg Skeletal Dysplasia | LBR |
| 199 | Griscelli Syndrome, Type 1 | MYO5A |
| 200 | Griscelli Syndrome, Type 2 | RAB27A |
| 201 | Gyrate Atrophy of Choroid and Retina | OAT |
| H | ||
| 202 | Hemochromatosis, Type 2 | HJV |
| 203 | Hemochromatosis, Type 3 | TFR2 |
| 204 | Hepatic Venoocclusive Disease with Immunodeficiency | SP110 |
| 205 | Hereditary Fructose Intolerance | ALDOB |
| 206 | Hermansky-Pudlak Syndrome 1 | HPS1 |
| 207 | Holocarboxylase Synthetase Deficiency | HLCS |
| 208 | Homocystinuria | MTHFR |
| 209 | Homocystinuria-Megaloblastic Anemia | MTRR |
| 210 | Hunter Syndrome | IDS |
| 211 | Hurler syndrome | IDUA |
| 212 | Hyaline Fibromatosis Syndrome | ANTXR2 |
| 213 | Hydrolethalus Syndrome | HYLS1 |
| 214 | Hyperoxaluria, Type I | AGXT |
| 215 | Hyperoxaluria, Type II | GRHPR |
| 216 | Hyperoxaluria, Type III | HOGA1 |
| 217 | Hyperphenylalaninemia | PTS |
| 218 | Hypoaldosteronism, CMO I Deficiency | CYP11B2 |
| 219 | Hypohidrotic Ectodermal Dysplasia | EDA |
| 220 | Hypomyelinating leukodystrophy 12 | VPS11 |
| 221 | Hypophosphatasia | ALPL |
| I | ||
| 222 | Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 | DNMT3B |
| 223 | Infantile Striatonigral Degeneration | NUP62 |
| 224 | Insulin-Like Growth Factor I Deficiency | IGF1 |
| 225 | Isovaleric Acidemia | IVD |
| J | ||
| 226 | Jervell and Lange-Nielsen Syndrome | KCNQ1 |
| 227 | Joubert Syndrome 1 | INPP5E |
| 228 | Joubert Syndrome 12 | KIF7 |
| 229 | Joubert Syndrome 13 | TCTN1 |
| 230 | Joubert Syndrome 14 | TMEM237 |
| 231 | Joubert Syndrome 15 | CEP41 |
| 232 | Joubert Syndrome 16 | TMEM138 |
| 233 | Joubert Syndrome 17 | CPLANE1 |
| 234 | Joubert Syndrome 18 | TCTN3 |
| 235 | Joubert Syndrome 2 | TMEM216 |
| 236 | Joubert Syndrome 20 | TMEM231 |
| 237 | Joubert Syndrome 21 | CSPP1 |
| 238 | Joubert Syndrome 22 | PDE6D |
| 239 | Joubert Syndrome 23 | KIAA0586 |
| 240 | Joubert Syndrome 24 | TCTN2 |
| 241 | Joubert Syndrome 27 | B9D1 |
| 242 | Joubert Syndrome 3 | AHI1 |
| 243 | Joubert Syndrome 4 | NPHP1 |
| 244 | Joubert Syndrome 5 | CEP290 |
| 245 | Joubert Syndrome 6 | TMEM67 |
| 246 | Joubert Syndrome 7 | RPGRIP1L |
| 247 | Joubert Syndrome 8 | ARL13B |
| 248 | Joubert Syndrome 9 | CC2D2A |
| 249 | Juvenile Amyotrophic Lateral Sclerosis 2 | ALS2 |
| 250 | Juvenile Hemochromatosis, Type 2 | HAMP |
| 251 | Juvenile Neuronal Ceroid Lipofuscinose | CLN3 |
| 252 | Juvenile Paget Disease | TNFRSF11B |
| 253 | Juvenile Retinoschisis | RS1 |
| K | ||
| 254 | Kenny-Caffey Syndrome, Type 1 | TBCE |
| 255 | Krabbe Disease | GALC |
| L | ||
| 256 | Lamellar Ichthyosis | TGM1 |
| 257 | Late Infantile Neuronal Ceroid Lipofuscinoses | CLN6 |
| 258 | Lathosterolosis | SC5D |
| 259 | Leber Congenital Amaurosis 16 | KCNJ13 |
| 260 | Leber Congenital Amaurosis 2 | RPE65 |
| 261 | Leprechaunism | INSR |
| 262 | Lethal Congenital Contracture Syndrome 1 | GLE1 |
| 263 | Lethal Congenital Contracture Syndrome 2 | ERBB3 |
| 264 | Lethal Osteosclerotic Bone Dysplasia | FAM20C |
| 265 | Leukoencephalopathy with Vanishing White Matter | EIF2B5 |
| 266 | Limb-Girdle Muscular Dystrophy, Type 1 | CAPN3 |
| 267 | Limb-Girdle Muscular Dystrophy, Type 17 | PLEC |
| 268 | Limb-Girdle Muscular Dystrophy, Type 2 | DYSF |
| 269 | Limb-Girdle Muscular Dystrophy, Type 23 | LAMA2 |
| 270 | Limb-Girdle Muscular Dystrophy, Type 3 | SGCA |
| 271 | Limb-Girdle Muscular Dystrophy, Type 4 | SGCB |
| 272 | Limb-Girdle Muscular Dystrophy, Type 5 | SGCG |
| 273 | Limb-Girdle Muscular Dystrophy, Type 5C | FKRP |
| 274 | Limb-Girdle Muscular Dystrophy, Type C1 | POMT1 |
| 275 | Limb-Girdle Muscular Dystrophy, Type C3 | POMGNT1 |
| 276 | Lipoid Adrenal Hyperplasia | STAR |
| 277 | Lipoprotein Lipase Deficiency | LPL |
| 278 | Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency | HADHA |
| 279 | Lysinuric Protein Intolerance | SLC7A7 |
| M | ||
| 280 | Mandibuloacral Dysplasia | ZMPSTE24 |
| 281 | Maple Syrup Urine Disease, Type III | DLD |
| 282 | Maple syrup urine Disease, Type 1A | BCKDHA |
| 283 | Maple syrup urine Disease, Type 1B | BCKDHB |
| 284 | Maple syrup urine Disease, Type II | DBT |
| 285 | Marinesco-Sjögren Syndrome | SIL1 |
| 286 | Medium Chain Acyl-CoA Dehydrogenase Deficiency | ACADM |
| 287 | Megalencephalic Leukoencephalopathy 1 | MLC1 |
| 288 | Metachromatic Leukodystrophy | ARSA |
| 289 | Methylmalonic Aciduria, MMAA-Related | MMAA |
| 290 | Methylmalonic Aciduria, MMAB-Related | MMAB |
| 291 | Methylmalonic Aciduria, MMACHC-Related | MMACHC |
| 292 | Methylmalonic Aciduria, MMUT-Related | MMUT |
| 293 | Mitochondrial Complex I Deficiency, ACAD9-Related | ACAD9 |
| 294 | Mitochondrial DNA depletion Syndrome 1, TYMP-Related | TYMP |
| 295 | Mitochondrial Trifunctional Protein Deficiency 2 | HADHB |
| 296 | Molybdenum Cofactor Deficiency, Type A | MOCS1 |
| 297 | Mucolipidosis II/IIIA | GNPTAB |
| 298 | Mucolipidosis III gamma | GNPTG |
| 299 | Mucolipidosis, Type IV | MCOLN1 |
| 300 | Mucopolysaccharidosis, Type IVB | GLB1 |
| 301 | Mucopolysaccharidosis, Type IX | HYAL1 |
| 302 | Mucopolysaccharidosis, Type VI | ARSB |
| 303 | Mucopolysaccharidosis, Type VII | GUSB |
| 304 | Mulibrey Nanism | TRIM37 |
| 305 | Multiple Pterygium Syndrome | CHRNA1 |
| 306 | Multiple Sulfatase Deficiency | SUMF1 |
| 307 | Myasthenic Syndrome 13 | DPAGT1 |
| 308 | Myasthenic Syndrome 22 | PREPL |
| 309 | Myoclonic Epilepsy of Lafora, Type 2A | EPM2A |
| 310 | Myoclonic Epilepsy of Lafora, Type 2B | NHLRC1 |
| 311 | Myoclonic Epilepsy of Unverricht and Lundborg, Type 1A | CSTB |
| 312 | Myophosphorylase Deficiency | PYGM |
| N | ||
| 313 | N-Acetylglutamate Synthase Deficiency | NAGS |
| 314 | Nemaline Myopathy 2 | NEB |
| 315 | Nemaline Myopathy 5 | TNNT1 |
| 316 | Neonatal Glycine Encephalopathy | AMT |
| 317 | Neonatal Glycine Encephalopathy | GCSH |
| 318 | Neonatal Ichthyosis-Sclerosing Cholangitis | CLDN1 |
| 319 | Nephronophthisis 3 | NPHP3 |
| 320 | Nephrotic Syndrome, Type 1 | NPHS1 |
| 321 | Nephrotic Syndrome, Type 2 | NPHS2 |
| 322 | Neuronal ceroid lipofuscinosis, PPT1-Related | PPT1 |
| 323 | Neuronal ceroid lipofuscinosis, TPP1-Related | TPP1 |
| 324 | Neuronal ceroid-lipofuscinosis, CLN5-Related | CLN5 |
| 325 | Neutropenia, Severe congenital 3 | HAX1 |
| 326 | Neutropenia, Severe congenital 4 | G6PC3 |
| 327 | Niemann-Pick Disease | SMPD1 |
| 328 | Niemann-Pick Disease, Type C1 | NPC1 |
| 329 | Niemann-pick Disease, Type C2 | NPC2 |
| 330 | Nijmegen Breakage Syndrome | NBN |
| 331 | Non-Syndromic Hearing Loss | TMC1 |
| 332 | Non-Syndromic Hearing Loss, GJB2-Related | GJB2 |
| 333 | Nonaka Myopathy | GNE |
| O | ||
| 334 | Odontoonychodermal Dysplasia | WNT10A |
| 335 | Omenn Syndrome | RAG1 |
| 336 | Omenn Syndrome | DCLRE1C |
| 337 | Omenn syndrome | RAG2 |
| 338 | Osteopetrosis | CA2 |
| 339 | Osteopetrosis, Infantile Malignant | TCIRG1 |
| P | ||
| 340 | Pendred Syndrome | SLC26A4 |
| 341 | Peroxisomal Acyl-CoA Oxidase Deficiency | ACOX1 |
| 342 | Peroxisome Biogenesis Disorder | PEX7 |
| 343 | Perrault Syndrome 1 | HSD17B4 |
| 344 | Perrault Syndrome 5 | TWNK |
| 345 | Phenylketonuria | PAH |
| 346 | Pierson Syndrome | LAMB2 |
| 347 | Pituitary Hormone Deficiency 2 | PROP1 |
| 348 | Polycystic Kidney Disease 4 | PKHD1 |
| 349 | Polyglandular aAutoimmune Syndrome, Type 1 | AIRE |
| 350 | Polymicrogyria | ADGRG1 |
| 351 | Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract, PHARC Disorder | ABHD12 |
| 352 | Pontocerebellar Hypoplasia, Type 1 | RARS2 |
| 353 | Pontocerebellar Hypoplasia, Type 2 | TSEN54 |
| 354 | Postnatal Progressive Microcephaly | MED17 |
| 355 | Primary Ciliary Dyskinesia, DNAH5-Related | DNAH5 |
| 356 | Primary congenital glaucoma | CYP1B1 |
| 357 | Progressive Cerebellocerebral Atrophy, Type 1 | SEPSECS |
| 358 | Progressive Cerebellocerebral Atrophy, Type 2 | VPS53 |
| 359 | Progressive Familial Intrahepatic Cholestasis, Type 1 | ATP8B1 |
| 360 | Progressive Familial Intrahepatic Cholestasis, Type 2 | ABCB11 |
| 361 | Propionicacidemia | PCCA |
| 362 | Propionicacidemia | PCCB |
| 363 | Pseudohypoaldosteronism, Type IB | SCNN1B |
| 364 | Pseudohypoaldosteronism, Type IB1 | SCNN1A |
| 365 | Pseudohypoaldosteronism, Type IB3 | SCNN1G |
| 366 | Pycnodysostosis | CTSK |
| 367 | Pyridoxamine 5'-Phosphate Oxidase Deficiency | PNPO |
| 368 | Pyruvate Kinase Deficiency | PKLR |
| R | ||
| 369 | Renal Hypomagnesemia 5 | CLDN19 |
| 370 | Retinitis Pigmentosa 12 | CRB1 |
| 371 | Retinitis Pigmentosa 25 | EYS |
| 372 | Retinitis Pigmentosa 26 | CERKL |
| 373 | Retinitis Pigmentosa 28 | FAM161A |
| 374 | Retinitis Pigmentosa 59 | DHDDS |
| 375 | Rhizomelic Chondrodysplasia Punctata, Type 3 | AGPS |
| 376 | Roberts Syndrome | ESCO2 |
| S | ||
| 377 | Salla Disease | SLC17A5 |
| 378 | Sandhoff Disease | HEXB |
| 379 | Sanfilippo Syndrome A | SGSH |
| 380 | Sanfilippo Syndrome B | NAGLU |
| 381 | Sanfilippo Syndrome C | HGSNAT |
| 382 | Schimke Immunoosseous Dysplasia | SMARCAL1 |
| 383 | Schneckenbecken Dysplasia | SLC35D1 |
| 384 | Schwartz-Jampel Syndrome, Type 1 | HSPG2 |
| 385 | Seckel Syndrome | ATR |
| 386 | Senior-Loken Syndrome 4 | NPHP4 |
| 387 | Senior-Loken Syndrome 5 | IQCB1 |
| 388 | Short-Chain Acyl-CoA Dehydrogenase Deficiency | ACADS |
| 389 | Short-Rib Thoracic Dysplasia | TTC21B |
| 390 | Shwachman-Diamond Syndrome | SBDS |
| 391 | Sialidosis, Type I | NEU1 |
| 392 | Sjogren-Larsson Syndrome | ALDH3A2 |
| 393 | Skin Fragility-Woolly Hair Syndrome | DSP |
| 394 | Smith-Lemli-Opitz Syndrome | DHCR7 |
| 395 | Spastic Ataxia of Charlevoix-Saguenay | SACS |
| 396 | Spinal Muscular Atrophy | SMN1 |
| 397 | Spinal Muscular Atrophy Type 2 | SMN2 |
| 398 | Stargardt Disease 1 | ABCA4 |
| 399 | Steel Syndrome | COL27A1 |
| 400 | Stuve-Wiedemann Syndrome / Schwartz-Jampel Syndrome, Type 2 | LIFR |
| 401 | Succinate-CoA Ligase Deficiency | SUCLA2 |
| 402 | Sudden infant death with dysgenesis of the testes Syndrome | TSPYL1 |
| 403 | Sulfite Oxidase Deficiency | SUOX |
| T | ||
| 404 | T-cell immunodeficiency, Congenital Alopecia and Nail Dystrophy | FOXN1 |
| 405 | Tay-Sachs Disease | HEXA |
| 406 | Tetra-Amelia Syndrome 1 | WNT3 |
| 407 | Tyrosinemia, Type I | FAH |
| U | ||
| 408 | Usher Syndrome, Type 1 | USH1G |
| 409 | Usher Syndrome, Type 1B | MYO7A |
| 410 | Usher Syndrome, Type 1C | USH1C |
| 411 | Usher Syndrome, Type 1D | CDH23 |
| 412 | Usher Syndrome, Type 1F | PCDH15 |
| 413 | Usher Syndrome, Type 2A | USH2A |
| 414 | Usher Syndrome, Type 2C | ADGRV1 |
| 415 | Usher Syndrome, Type 2D | WHRN |
| 416 | Usher Syndrome, Type 3 | CLRN1 |
| 417 | Usher Syndrome, Type IJ | CIB2 |
| V | ||
| 418 | Very-long Chain Acyl-CoA Dehydrogenase Deficiency | ACADVL |
| 419 | Vitamin D-dependent Rickets, Type I | CYP27B1 |
| W | ||
| 420 | Walker-Warburg Syndrome | FKTN |
| 421 | Warsaw Breakage Syndrome | DDX11 |
| 422 | Wilson Disease | ATP7B |
| 423 | Wolcott-Rallison Syndrome | EIF2AK3 |
| 424 | Wolman Disease | LIPA |
| Z | ||
| 425 | Zellweger spectrum Disorders 1A | PEX1 |
| 426 | Zellweger spectrum Disorders 4A | PEX6 |
| 427 | Zellweger spectrum Disorders 5A | PEX2 |
| 428 | Zellweger spectrum Disorders 6A | PEX10 |