Achondrogenesis due to SLC26A2 mutation |
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Achromatopsia due to ATF6 mutation |
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Achromatopsia due to CNGA3 mutation |
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Achromatopsia due to CNGB3 mutation |
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Achromatopsia due to GNAT2 mutation |
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Achromatopsia due to PDE6C mutation |
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Achromatopsia due to PDE6H mutation |
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Acute Fatty Liver due to HADHA mutation |
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Alkaptonuria due to HGD mutation |
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Alpha Thalassemia due to HBA1/HBA2 mutation |
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Alpha-1 Antitrypsin Deficiency due to SERPINA1 mutation |
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Alpha-Mannosidosis due to MAN2B1 mutation |
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Alpha-Sarcoglycanopathy due to SGCA mutation |
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Andermann Syndrome due to SLC12A6 mutation |
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Aspartylglycosaminuria due to AGA mutation |
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Ataxia with Vitamin E Deficiency due to TTPA mutation |
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Ataxia-Telangiectasia due to ATM mutation |
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Autosomal Recessive Hypophosphatasia due to ALPL mutation |
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Autosomal Recessive Muscular Dystrophy due to CAPN3 mutation |
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Autosomal Recessive Muscular Dystrophy due to CAV3 mutation |
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Autosomal Recessive Muscular Dystrophy due to DYSF mutation |
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Autosomal Recessive Muscular Dystrophy due to FKTN mutation |
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Autosomal Recessive Polycystic Kidney Disease due to PKHD1 mutation |
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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) due to SACS mutation |
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Bardet-Biedl Syndrome due to BBS1 mutation |
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Bardet-Biedl Syndrome due to BBS10 mutation |
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Beta Chain-Related Hemoglobinopathy due to HBB mutation |
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Beta-sarcoglycanopathy (Limb-girdle muscular dystrophy) due to SGCB mutation |
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Biotinidase Deficiency due to BTD mutation |
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Bloom Syndrome due to BLM mutation |
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Canavan Disease due to ASPA mutation |
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Carnitine Palmitoyltransferase Deficiency due to CPT1A mutation |
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Carnitine Palmitoyltransferase Deficiency due to CPT2 mutation |
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Cartilage-hair Hypoplasia due to RMRP mutation |
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Choroideremia due to CHM mutation |
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Citrullinemia due to ASS1 mutation |
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Citrullinemia due to SLC25A13 mutation |
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Cohen Syndrome due to VPS13B mutation |
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Combined Pituitary Hormone Deficiency due to PROP1 mutation |
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Congenital Adrenal Hyperplasia due to CYP17A1 mutation |
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Congenital Disorder of Glycosylation due to MPI mutation |
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Congenital Disorder of Glycosylation due to PMM2 mutation |
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Costeff Optic Atrophy Syndrome due to OPA3 mutation |
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Cystic Fibrosis due to CFTR mutation |
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Cystinosis due to CTNS mutation |
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D-bifunctional Protein Deficiency due to HSD17B4 mutation |
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Deafness due to PCDH15 mutation |
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Diastrophic Dysplasia due to SLC26A2 mutation |
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Dihydrolipoamide Dehydrogenase Deficiency due to DLD mutation |
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Dihydropyrimidine Dehydrogenase Deficiency due to DPYD mutation |
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Dilated Cardiomyopathy due to FKTN mutation |
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Duchenne Muscular Atrophy due to DMD mutation |
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Factor XI Deficiency due to F11 mutation |
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Familial Dysautonomia due to ELP1 (IKBKAP) mutation |
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Familial Mediterranean Fever due to MEFV mutation |
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Fanconi Anemia due to FANCA mutation |
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Fanconi Anemia due to FANCC mutation |
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Fanconi Anemia due to FANCG mutation |
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Galactosemia due to GALT mutation |
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Gaucher Disease due to GBA mutation |
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Glucose-6-phosphate Dehydrogenase Deficiency due to G6PD mutation |
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Glutaric Acidemia due to GCDH mutation |
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Glycogen Storage Disease due to AGL mutation |
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Glycogen Storage Disease due to G6PC mutation |
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Glycogen Storage Disease due to PYGM mutation |
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Glycogen Storage Disease due to SLC37A4 mutation |
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GRACILE Syndrome due to BCS1L mutation |
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HELLP Syndrome due to HADHA mutation |
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Hereditary Fructose Intolerance due to ALDOB mutation |
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Herlitz Junctional Epidermolysis Bullosa due to LAMA3 mutation |
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Herlitz Junctional Epidermolysis Bullosa due to LAMB3 mutation |
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Herlitz Junctional Epidermolysis Bullosa due to LAMC2 mutation |
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Hexosaminidase A Deficiency (Including Tay-Sachs Disease) due to HEXA mutation |
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HFE-associated Hereditary Hemochromatosis due to HFE mutation |
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Homocystinuria due to CBS mutation |
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Hyperinsulinism due to ABCC8 mutation |
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Hyperinsulinism due to HADH mutation |
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Hyperinsulinism due to KCNJ11 mutation |
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Inclusion Body Myopathy due to GNE mutation |
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Isovaleric Acidemia due to IVD mutation |
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Joubert Syndrome due to TMEM216 mutation |
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Krabbe Disease due to GALC mutation |
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LCHAD Deficiency due to HADHA mutation |
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Maple Syrup Urine Disease due to BCKDHA mutation |
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Maple Syrup Urine Disease due to BCKDHB mutation |
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Maple Syrup Urine Disease due to DBT mutation |
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Maple Syrup Urine Disease due to DLD mutation |
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Medium Chain Acyl-CoA Dehydrogenase Deficiency due to ACADM mutation |
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Megalencephalic Leukoencephalopathy with Subcortical Cysts due to MLC1 mutation |
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Metachromatic Leukodystrophy due to ARSA mutation |
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MTHFR Deficiency due to MTHFR mutation |
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Mucolipidosis due to MCOLN1 mutation |
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Mucopolysaccharidosis due to IDUA mutation |
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Muscle-Eye-Brain Disease due to POMGNT1 mutation |
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Muscular dystrophy-dystroglycanopathy due to FKTN mutation |
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Nemaline Myopathy due to KLHL40 mutation |
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Nemaline Myopathy due to NEB mutation |
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Neuronal Ceroid Lipofuscinosis due to CLN3 mutation |
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Neuronal Ceroid Lipofuscinosis due to CLN5 mutation |
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Neuronal Ceroid Lipofuscinosis due to PPT1 mutation |
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Neuronal Ceroid Lipofuscinosis due to TPP1 mutation |
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Niemann-Pick Disease due to NPC1 mutation |
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Niemann-Pick Disease due to SMPD1 mutation |
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Nijmegen Breakage Syndrome due to NBN mutation |
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Nonsyndromic Hearing Loss and Deafness due to GJB2 mutation |
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Nonsyndromic Hearing Loss and Deafness due to GJB3 mutation |
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Northern Epilepsy due to CLN8 mutation |
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Pendred Syndrome due to SLC26A4 mutation |
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Phenylalanine Hydroxylase Deficiency due to GCH1 mutation |
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Phenylalanine Hydroxylase Deficiency due to GCHFR mutation |
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Phenylalanine Hydroxylase Deficiency due to PAH mutation |
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Phenylalanine Hydroxylase Deficiency due to PCBD1 mutation |
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Phenylalanine Hydroxylase Deficiency due to PTS mutation |
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Phenylalanine Hydroxylase Deficiency due to QDPR mutation |
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Polyglandular Autoimmune Syndrome due to AIRE mutation |
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Pompe Disease due to GAA mutation |
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Primary Carnitine Deficiency due to SLC22A5 mutation |
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Primary Hyperoxaluria due to AGXT mutation |
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Primary Hyperoxaluria due to GRHPR mutation |
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Primary Hyperoxaluria due to HOGA1 mutation |
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Pseudocholinesterase Deficiency due to BCHE mutation |
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Pycnodysostosis due to CTSK mutation |
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Recessive Multiple Epiphyseal Dysplasia due to SLC26A2 mutation |
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Rhizomelic Chondrodysplasia Punctata due to PEX7 mutation |
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Salla Disease due to SLC17A5 mutation |
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Segawa Syndrome due to TH mutation |
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Short Chain Acyl-CoA Dehydrogenase Deficiency due to ACADS mutation |
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Sickle Cell Disease due to HBB mutation |
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Sjögren-Larsson Syndrome due to ALDH3A2 mutation |
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Smith-Lemli-Opitz Syndrome due to DHCR7 mutation |
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Steroid-resistant Nephrotic Syndrome due to COQ8B (ADCK4) mutation |
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Steroid-resistant Nephrotic Syndrome due to CUBN mutation |
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Steroid-resistant Nephrotic Syndrome due to LAMB2 mutation |
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Steroid-resistant Nephrotic Syndrome due to LMX1B mutation |
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Steroid-resistant Nephrotic Syndrome due to NPHS1 mutation |
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Steroid-resistant Nephrotic Syndrome due to NPHS2 mutation |
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Steroid-resistant Nephrotic Syndrome due to PLCE1 mutation |
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Steroid-resistant Nephrotic Syndrome due to SMARCAL1 mutation |
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Steroid-resistant Nephrotic Syndrome due to WT1 mutation |
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Sulfate Transporter-related Osteochondrodysplasia due to SLC26A2 mutation |
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Trifunctional Protein Deficiency due to HADHA mutation |
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Tyrosinemia due to FAH mutation |
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Usher Syndrome due to ADGRV1 (GPR98) mutation |
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Usher Syndrome due to CDH23 mutation |
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Usher Syndrome due to CIB2 mutation |
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Usher Syndrome due to CLRN1 mutation |
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Usher Syndrome due to MYO7A mutation |
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Usher Syndrome due to PCDH15 mutation |
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Usher Syndrome due to PDZD7 mutation |
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Usher Syndrome due to USH1C mutation |
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Usher Syndrome due to USH1G mutation |
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Usher Syndrome due to USH2A mutation |
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Usher Syndrome due to WHRN (DFNB31) mutation |
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Very Long Chain Acyl-CoA Dehydrogenase Deficiency due to ACADVL mutation |
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Wilson Disease due to ATP7B mutation |
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X-linked Juvenile Retinoschisis due to RS1 mutation |
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Zellweger Syndrome Spectrum due to PEX1 mutation |
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