| 2-Aminoadipic 2-Oxoadipic Aciduria | AMOXAD/Adipic Aciduria | |
| 2-Methylbutyric Aciduria | Short Branched-Chain acyl-CoA Dehydrogenase Deficiency | |
| 3-Alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency | HADH Deficiency (Formerly SCHAD Deficiency) | |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | HMG-CoA Lyase Deficiency | |
| 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency | HMG-CoA Synthase Deficiency | |
| 3-Hydroxyisobutyric Aciduria | ||
| 6-Pyruvoyl-Tetrahydrobiopterin Synthase Deficiency | PTPS Deficiency | |
| . | ||
| A | ||
| Acatalasaemia | Takahara’s Disease | |
| Acrodermatatis Enteropathica | AE | |
| Acute Hepatic Porphyria | ||
| Acute Intermittent Porphyria | AIP | |
| Adenine Phosphoribosyltransferase Deficiency | APRT Deficiency | |
| Adenosine Deaminase Deficiency | ADA-SCID, ADA Deficiency | |
| Adenylosuccinate Lyase Deficiency | ADSL Deficiency | |
| Adrenoleukodystrophy | ALD | |
| AICAR Transformylase Deficiency/IMP Cyclohydrolase Deficiency | ATIC Deficiency | |
| Aicardi-Goutieres Syndrome | AGS | |
| ALA-D Porphyria | ||
| Aldolase A Deficiency | ||
| Alexander Disease | ||
| Alkaptonuria | AKU | |
| Alpers Disease | Alpers-Huttenlocher Syndrome | |
| Alpha-1 Antitrypsin Deficiency | AAT Deficiency | |
| Alpha-Ketoglutarate Dehydrogenase Deficiency | 2 Oxoglutarate Dehydrogenase Deficiency | |
| Alpha-Mannosidosis | ||
| Alpha-Methylacyl CoA Racemase Deficiency | AMACR Deficiency | |
| Aminoacylase 1 Deficiency | ||
| Arginase Deficiency | Argininaemia | |
| Arginine:Glycine Amidinotransferase Deficiency | AGAT Deficiency | |
| Argininosuccinic Aciduria | ASA | |
| Aromatic L-Amino Acid Decarboxylase Deficiency | AADC Deficiency | |
| Arts Syndrome | ||
| Aspartylglucosaminuria | AGU | |
| …….. | ||
| B | ||
| Beta-Aminoisobutyric Aciduria | ||
| Beta-Enolase Deficiency | Glycogen Storage Disease 13/ GSD XIII | |
| Beta-Ketothiolase Deficiency | Alpha-Methylacetoacetic Aciduria | |
| Beta-Mannosidosis | ||
| Beta Ureidopropionase Deficiency | Beta-Alanine Synthase Deficiency | |
| Biotinidase Deficiency | Multiple Carboxylase Deficiency | |
| Biotin-Responsive Basal Ganglia Disease | ||
| Byler Disease | Progressive Familial Intrahepatic Cholestasis 1 / PFIC 1 | |
| … | ||
| C | ||
| Canavan Disease | Canavan Leukodystrophy / Aminoacylase 2 Deficiency | |
| Carbamoyl Phosphate Synthetase I Deficiency | CPS I Deficiency | |
| Carnitine-Acylcarnitine Translocase Deficiency | CACT Deficiency | |
| Carnitine Palmitoyltransferase I Deficiency | CPT I Deficiency | |
| Carnitine Palmitoyltransferase II Deficiency | CPT II Deficiency | |
| Carnosinaemia | Carnosinase Deficiency | |
| Cerebral Folate Transport Deficiency | ||
| Cerebrotendinous Xanthomatosis | CTX | |
| Cholesterol 7-Alpha Hydroxylase Deficiency | CYP7A1 Deficiency | |
| Chylomicron Retention Disease | Anderson Disease | |
| Citrullinaemia Type 1 | ||
| Citrullinaemia Type 2 | Citrin Deficiency | |
| CLN1 Disease, Infantile | Batten Disease – Infantile | |
| CLN2 Disease, Late Infantile | Batten Disease – Late Infantile | |
| CLN3 Disease, Juvenile | Batten Disease – Juvenile | |
| CLN4 Disease | Kufs Disease / Batten Disease – Adult Form | |
| CLN5 Disease, Variant Late-Infantile | Batten Disease – Variant Late-Infantile Form | |
| CLN6 Disease, Variant Late-Infantile | Batten Disease – Variant Late-Infantile Form | |
| CLN7 Disease, Variant Late-Infantile | Batten Disease – Variant Late-Infantile Form | |
| CLN8 Disease, Variant Late Infantile | Batten Disease – Variant Late Infantile Form / Epilepsy with Progressive Mental Retardation / Batten Disease – Northern Epilepsy | |
| CLN10 Disease | Cathepsin D Deficiency | |
| Congenital Disorders of Glycosylation | CDG | |
| Congenital Erythropoietic Protoporphyria | CEP / Günther’s Disease | |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Congenital Adrenal Hyperplasia |
CHILD Syndrome CAH |
|
| Congenital Sucrase-Isomaltase Deficiency | CSID | |
| Crigler-Najjar Syndrome Type 1 | CN1 | |
| Cutis Laxa, Autosomal Recessive, Type 2B | ||
| Cystathioninuria | Cystathionase Deficiency | |
| Cystinosis | ||
| Cystinuria | ||
| Cytosolic Acetoacetyl CoA Thiolase Deficiency | ||
| …. | ||
| D | ||
| D-2 Hydroxyglutarate Dehydrogenase Deficiency | D2HGDH Deficiency | |
| Danon Disease | Glycogen Storage Disease Type 2b | |
| Defect in Adenosylcobalamin Sythesis – Cbl A | ||
| Defect in Adenosylcobalamin Sythesis – Cbl B | ||
| Defect in Adenosylcobalamin Sythesis – Cbl C – HCU | ||
| Defect in Adenosylcobalamin Sythesis – Cbl D -MMA | ||
| Delta 4-3-Oxysterol 5-Beta Reductase Deficiency | ||
| Deoxyguanosine Kinase Deficiency | ||
| Desmosterolosis | ||
| D-Glyceric Aciduria | ||
| Dihydrolipoamide Dehydrogenase Deficiency | ||
| Dihydroorotate Dehydrogenase Deficiency | ||
| Dihydropyrimidinase Deficiency | ||
| Dihydropyrimidine Dehydrogenase Deficiency | ||
| Disaccharide Intolerance I | ||
| Disorder of Low Density Lipoprotein Receptor | ||
| Dopamine Beta-Hydroxylase Deficiency | ||
| …. | ||
| E | ||
| Encephalomyopathy with Renal Tubulopathy | ||
| Encephalomyopathy with Methylmalonic Aciduria | ||
| Enterocyte Intrinsic Factor Receptor Deficiency | ||
| Erythropoietic Protoporphyria | EPP | |
| Essential Fructosuria | ||
| Essential Pentosuria | ||
| Ethylmalonic Encephalopathy | ||
| Exercise Intolerance with Lactic Acidosis | ||
| EXT1 Deficiency | ||
| EXT2 Deficiency | ||
| …. | ||
| F | ||
| Fabry Disease | ||
| Familial Abetalipoproteinaemia | ||
| Familial Chylomicronaemia | ||
| Familial Combined Hyperlipoproteinaemia | ||
| Familial Dysbetalipoproteinaemia | ||
| Familial HDL Deficiency | Familial Hypoalphalipoproteinaemia | |
| Familial Hyperalphalipoproteinaemia | ||
| Familial Hypercholesterolaemia | ||
| Familial Hypertriglyceridaemia | ||
| Familial Hypoalphalipoproteinaemia | ||
| Familal Hypobetalipoproteinaemia | ||
| Familial Juvenile Hyperuricaemic Nephropathy | FJHN | |
| Farber Disease | ||
| Fatal Infantile Lactic Acidois with Methylmalonic Aciduria | ||
| Fructose-1,6-Bisphosphatase Deficiency | ||
| Fucosidosis | ||
| Fukutin Deficiency | ||
| Fukutin-Related Protein Deficiency | ||
| Fumarase Deficiency | ||
| … | ||
| G | ||
| GABA Transaminase Deficiency | ||
| Galactokinase Deficiency | ||
| Galactosaemia | Classical Galactosaemia | |
| Galactosialidosis | ||
| Gamma-Glutamylcysteine Sythetase Deficiency | ||
| Gaucher Disease | ||
| Glucose Galactose Malabsorption | ||
| Glucose-6-Phosphate Dehydrogenase Deficiency | G6PD | |
| GLUT1 Deficiency Syndrome | Glucose Transporter Type 1 Deficiency | |
| Glutamate Formimotransferase Deficiency | ||
| Glutamine Synthetase Deficiency | ||
| Glutaric Aciduria Type 1 | GA1/ Glutaric Acidemia Type 1 | |
| Glutaric Aciduria Type 2 | GA2 / MADD / Multiple-acyl-CoA Dehydrogenase Deficiency/ Glutaric Acidemia Type 2 | |
| Glutaryl CoA Oxidase Deficiency | ||
| Glutathione Sythetase Deficiency | ||
| Glutathionuria | ||
| Glycerol Kinase Deficiency | ||
| Glycine-N-Methyltransferase Deficiency | ||
| Glycogen Storage Disease Type Oa | GSD Oa | |
| Glycogen Storage Disease Type Ob | GSD Ob | |
| Glycogen Storage Disease Type Ia | GSD Ia / Von Gierke Disease / Glucose-6-Phosphatase Deficiency | |
| Glycogen Storage Disease Type Ib | GSD Ib | |
| Glycogen Storage Disease Type II | GSD II / Pompe Disease | |
| Glycogen Storage Disease Type III | GSD III / Cori Disease | |
| Glycogen Storage Disease Type IV | GSD IV / Andersen Disease | |
| Glycogen Storage Disease Type IX | GSD IX | |
| Glycogen Storage Disease Type V | GSD V / McArdle Disease | |
| Glycogen Storage Disease Type VI | GSD VI / Hers Disease | |
| Glycogen Storage Disease Type VII | GSD VII / Tarui Disease | |
| Glycogen Storage Disease Type X | GSD X | |
| Glycogen Storage Disease Type XI | GSD XI | |
| Glycogen Storage Disease Type XIV | GSD XIV | |
| Glycogen Storage Disease Type XV | GSD XV | |
| GM1 Gangliosidosis | ||
| GM2 Gangliosidosis | ||
| GRACILE Syndrome | ||
| Greenberg Skeletal Dysplasia | ||
| Guanidinoacetate Methyltransferase Deficiency | GAMT | |
| Guanosine 5 Triphosphate Cyclohydrolase Deficiency | ||
| Gyrate Atrophy | Ornithine Aminotransferase Deficiency | |
| …. | ||
| H | ||
| Haemosiderosis, Acquired | ||
| Haptocorrin Deficiency | ||
| Hartnup Disease | ||
| Hawkinsuria | ||
| Hepatic Lipase Deficiency | ||
| Hereditary Coproporphyria | ||
| Hereditary Folate Metabolism | ||
| Hereditary Fructose Intolerance | ||
| Hereditary Haemochromatosis | ||
| Hermansky-Pudlak Syndrome | ||
| Hexokinase Deficiency | ||
| HHH Syndrome | ||
| Histidinaemia | ||
| Holocarboxylase Synthetase Deficiency | ||
| Homocarnosinosis | ||
| Homocystinuria | HCU / Cystathionase Beta Synthase Deficiency (Classical HCU) | |
| HSD10 Deficiency | 2-Methyl-3-Hydroxybutyric Aciduria | |
| Hydroxykynureinuria | ||
| Hyper-beta-alinaemia | ||
| Hyperinsulinism Hypoglycaemia and Hyperammonaemia (GLUD1 Gene) | ||
| Hyperleucine-Isoleucinemia | ||
| Hyperlysinaemia Type I | ||
| Hyperlysinaemia Type II | ||
| Hyperzincaemia and Hypercalprotectinaemia | ||
| Hypomagnesaemia, Primary | ||
| Hypomagnesaemia, Secondary | ||
| Hypomagnesaemic Tetany | ||
| Hypophosphatasia | HPP | |
| Hypoprolinaemia | ||
| Hypotonia-Cystinuria Syndrome | HCS | |
| … | ||
| I | ||
| Iminoglycinuria | ||
| Infantile Refsum Disease | IRD | |
| Inoserine Triphosphatase Deficiency | ||
| Intrinsic Factor Deficiency | ||
| Isobutyric Aciduria | ||
| Isolated Suphite Oxidase Deficiency | ||
| Isovaleric Acidaemia | IVA | |
| … | ||
| K | ||
| Kearns Sayre Syndrome | KSS | |
| Krabbe Disease | ||
| … | ||
| L | ||
| L2 Hydroxyglutaric Aciduria | ||
| Lactose Intolerance | ||
| Lactosylceramide Alpha-2,3-Sialytransferase Deficiency | ||
| Lafora Body Disease | ||
| Latherosterolosis | ||
| Leber Hereditary Optic Neuropathy | LHON | |
| Lecithin Cholesterol Acyltransferase Deficiency | LCAT Deficiency | |
| Leigh Syndrome | Leigh Disease | |
| Lesch-Nyhan Syndrome | ||
| Lethal Infantile Mitochondrial Myopathy | ||
| Long-Chain acyl CoA Dehydrogenase Deficiency | LCADD | |
| Lowe Syndrome | ||
| Lysinuric Protein Intolerance | ||
| … | ||
| M | ||
| Malonyl CoA Decarboxylase Deficiency | ||
| Maple Syrup Urine Disease | MSUD | |
| Marinesco Sjogren Syndrome | ||
| Maternally Inherited Diabetes and Deafness | ||
| Medium Chain Acyl CoA Dehydrogenase Deficiency | MCADD | |
| Menkes Disease | ||
| Metachromatic Leukodytrophy | MLD | |
| Methionine Adenosyltransfersase I/II Deficiency | ||
| Methionine Synthase Deficiency, CblG | ||
| Methionine Synthase Reductase Deficiency, CblE | ||
| Methylacrylic Aciduria | ||
| Methylcrotonylglycinuria | ||
| Methylenetetrahydrofolate Reductase Deficiency | MTHFR Deficiency | |
| Methylglutaconic Aciduria Type I | ||
| Methylglutaconic Aciduria Type II | Barth Syndrome | |
| Methylglutaconic Aciduria Type III | ||
| Methylglutaconic Aciduria Type IV | ||
| Methylglutaconic Aciduria Type V | ||
| Methylmalonate Semialdehyde Dehydrogenase Deficiency | ||
| Methylmalonic Acidaemia with Homocystinuria, Cbl C | ||
| Methylmalonic Acidaemia with Homocystinuria, Cbl D | ||
| Methylmalonic Acidaemia with Homocystinuria, Cbl F | ||
| Methylmalonic Aciduria | MMA | |
| Methylmalonyl-CoA Epimerase Deficiency | GAMT | |
| Methylmalonyl-CoA Mutase Deficiency | ||
| Mevalonate Kinase Deficiency | ||
| Microcephaly, Amish Type | ||
| Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes | MELAS | |
| Mitochondrial Isocitrate Dehydrogenase Deficiency | ||
| Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency | ||
| Mitochondrial Nasogastrointestinal Encephalopathy Disease | ||
| Mitochondrial Protein Translation Defects | ||
| Mitochondrial Respiratory Chain Complex I | ||
| Mitochondrial Respiratory Chain Complex II | ||
| Mitochondrial Respiratory Chain Complex III | ||
| Mitochondrial Respiratory Chain Complex IV | ||
| Mitochondrial Respiratory Chain Complex V | ||
| Mitochondrial Ribonucleotide Reductase Subunit 2 Deficiency | ||
| Mitochondrial Trifunctional Protein Deficiency | ||
| Mohr-Tranebjaerg Syndrome | ||
| Molybdenum Cofactor Deficiency | HCP | |
| Morquio B Disease | ||
| MPS I | Hurler, Scheie Disease | |
| MPS II | Hunter Syndrome | |
| MPS IIIA | Sanfilippo A Disease | |
| MPS IIIB | Sanfilippo B Disease | |
| MPS IIIC | Sanfilippo C Disease | |
| MPS IIID | Sanfilippo D Disease | |
| MPS IVA | Morquio A Disease | |
| MPS IVB | Morquio B Disease | |
| MPS IX | ||
| MPS VI | Maroteaux-Lamy Disease | |
| MPS VII | Sly Disease | |
| Mucolipidosis II | I-Cell Disease | |
| Mucolipidosis III | Pseudo-Hurler Polydystrophy | |
| Mucolipidosis IV | ||
| Multiple Acyl CoA Dehydrogenase Deficiency | ||
| Multiple Sufatase Deficiency | ||
| Muscle LDH Deficiency | ||
| Muscle Phosphoglycerate Kinase Deficiency | ||
| Myoadenylate Deaminase Deficiency | ||
| Myoclonic Epilepsy with Ragged Red Fibres | MERRF | |
| … | ||
| N | ||
| N-Acetylglucosaminyltransferase-Like Protein Deficiency | ||
| N-Acetylglutamate Synthetase Deficiency | NAGS | |
| Neonatal Adrenoleukodystrophy | NALD | |
| Neonatal Haemochromatosis | ||
| Neuropathy Ataxia and Retinitis Pigmentosa | NARP | |
| Niemann Pick Disease Types A & B | NP-A / NP-B | |
| Niemann-Pick Disease Type C | NP-C | |
| Non-Ketotic Hyperglycinaemia | NKH | |
| … | ||
| O | ||
| O-Fucose-Specific Beta-1,3-N-Acetylglucosaminyltransferase Deficiency | ||
| O-Fucose-Specific Beta-1,3-N-Acetylglucosyltransferase Deficiency | ||
| Optic Atrophy 1 and Deafness | ||
| Optic Atrophy Type 1 | ||
| Ornithine Transcarbamylase Deficiency | OTC | |
| Orotic Aciduria Type I | ||
| Orotic Aciduria Type II | ||
| Osteogenesis Imperfecta | OI / Brittle Bone Disease | |
| Oxoprolinuria | ||
| Oxysterol 7-Alpha-Hydroxylase Deficiency | ||
| … | ||
| P | ||
| Pancreatic Colipase Deficiency | ||
| Pancreatic Triacylglycerol Lipase Deficiency | ||
| Pantothenate Kinase Deficiency | ||
| Papilon-Lefevre Syndrome | ||
| Pelizaeus Merzbacher Disease | PMD | |
| Phenylketonuria | PKU / Hyperphenylalanaemia | |
| Phosphoglycerate Dehydrogenase Deficiency | ||
| Phosphoribosyl Pyrophosphate Synthase Superactivity | ||
| Phosphoribosyl Pyrophosphate Synthetase 1 Defects | ||
| Phosphoserine Aminotransferase Deficiency | ||
| Phosphoserine Phosphatase Deficiency | ||
| Polypeptide N-Acetylgalactosaminyl Transferase Deficiency | ||
| Porphyria Cutanea Tarda | PCT | |
| Primary Carnitine Deficiency | Carnitine Transporter Deficiency | |
| Primary Hyperoxaluria Type I | ||
| Primary Hyperoxaluria Type II | ||
| Primary Idiopathic Gout | ||
| Progressive External Ophthalmoplegia Autosomal Dominant | ||
| Progressive External Ophthalmoplegia Autosomal Recessive | ||
| Progressive Familial Intrahepatic Cholestasis Type 2 | ||
| Progressive Familial Intrahepatic Cholestasis Type 3 | ||
| Prolidase Deficiency | ||
| Propionic Acidaemia | PA | |
| Prosaposin Deficiency | ||
| Protein-O-Mannose Beta-1,2-N-Acetylglucosaminyltransferase Deficiency | ||
| Protein-O-Mannosyltransferase 1 Deficiency | ||
| Protein-O-Mannosyltransferase 2 Deficiency | ||
| Pterin 4 Carbinolamine Dehydratase Deficiency | ||
| Pure Mitochondrial Myopathy | ||
| Purine Nucleoside Phosphorylase Deficiency | ||
| Pycnodysostosis | ||
| Pyridoxamine 5′-Oxidase Deficiency | ||
| Pyridoxine Deficiency | ||
| Pyridoxine Dependent Seizures | ||
| Pyridoxine Responsive Seizures | ||
| Pyrimidine-5-Nucleotidase Deficiency | ||
| Pyruvate Carboxylase Deficiency | ||
| Pyruvate Dehydrogenase Deficiency | ||
| Pyruvate Dehydrogenase Phosphatase Deficiency | ||
| Pyruvate Kinase Deficiency | ||
| … | ||
| Q | ||
| Quinoid Dihydropteridine Reductase Deficiency | ||
| … | ||
| R | ||
| Refsum Disease | Phytanic Acid Storage Disease | |
| Renal Tubulopathy, Encephalopathy and Liver Failure | ||
| Retinol Binding Protein Deficiency | ||
| Reye’s Syndrome | ||
| Rhizomelic Chondrodysplasia Punctata Types 1,2 & 3 | RCP 1,2 & 3 | |
| Ribose-5-Phosphate Isomerase Deficiency | ||
| RNASET2-Deficient Cystic Leukoencephalopathy | ||
| … | ||
| S | ||
| S-Adenosylhomocysteine Hydrolase Deficiency | ||
| Sarcosinaemia | ||
| Schindler Disease | ||
| Sensory Ataxia Neuropathy, Dysarthia and Ophthalmoparesis | ||
| Sepiapterin Reductase Deficiency | SPR Deficiency | |
| Short Chain acyl CoA Dehydrogenase Deficiency | SCADD | |
| Shwachman Syndrome | ||
| Sialidosis | ||
| Sialuria | ||
| Sideroblastic Anaemia and Spinocerebellar Ataxia | ||
| Sitosterolaemia | ||
| Sjogren-Larsson Syndrome | ||
| Smith-Lemli-Opitz Syndrome | ||
| Sporadic Leigh Syndrome | ||
| Sterol Carrier Protein Deficiency | ||
| Succinic Semialdehyde Dehydrogenase Deficiency | ||
| Succinyl-CoA 3-Oxoacid-CoA Transferase Deficiency | ||
| … | ||
| T | ||
| Tangier Disease | Alphalipoproteinemia | |
| Tay-Sachs Disease | ||
| Thiamine-Responsive Megaloblastic Anaemia Syndrome | ||
| Thiopurine S-Methyltransferase Deficiency | ||
| Thymidine Kinase 2 Deficiency | ||
| Thymidine Phosphorylase Deficiency | ||
| Transaldolase Deficiency | ||
| Trancobalamin II Deficiency | ||
| Transient Tyrosinaemia of the Neonate | ||
| Trehalase Deficiency | ||
| Trimethylaminuria | TMAU | |
| Tryptophanaemia | ||
| TTP1 Deficiency | ||
| Tyrosinaemia Type I | HT-1 | |
| Tyrosinaemia Type II | ||
| Tyrosinaemia Type III | ||
| Tyrosine Hydroxylase Deficiency | ||
| … | ||
| U | ||
| Ubiquinone (CoQ10) Deficiency (LS) | ||
| Uridine Disphosphate-Galactose-4-Epimerase Deficiency | ||
| Uridine-5′-Monophosphate Hydrolase Deficiency | ||
| Urocanase Deficiency | ||
| … | ||
| V | ||
| Variegate Porphyria | ||
| V-ATPase Deficiency | ||
| Very-Long Chain Acyl CoA Dehydrogenase Deficiency | VLCADD | |
| Vitamin K Epoxide Reductase Deficiency | ||
| … | ||
| W | ||
| Wilson Disease | WS | |
| Wolman Disease/Cholesterol Ester Storage Disease | CESD/ LAL-D LAL Deficiency / Lysosomal Acid Lipase Deficiency | |
| …. | ||
| X | ||
| Xanthinuria Type I | ||
| Xanthinuria Type II | ||
| X-Linked Adrenoleukodystrophy | X-ALD | |
| X-Linked Charcot Marie Tooth Disease – 5 | ||
| X-Linked Creatine Deficiency | Creatine Transporter Deficiency | |
| X-Linked Dominant Chondrodysplasia Punctata | ||
| X-Linked Hypophosphataemic Rickets | XLH | |
| X-Linked Dominant Protoporphyria | ||
| X-Linked Ichthyosis | ||
| X-Linked Sensorineural Deafness | ||
| X-Linked Sideroblastic Anaemia | ||
| … | ||
| Z | ||
| Zellweger Spectrum Disorder, Unclassified | ||
| Zellweger Syndrome |
https://www.metabolicsupportuk.org/disorders/