ABCA4-Related Disorders (ABCA4)
Carrier
Alpha-Thalassemia (HBA1/HBA2)
Silent carrier (aa/a-)
Nonsyndromic Deafness, TMPRSS3-Related (TMPRSS3)
Carrier
Pontocerebellar Hypoplasia, TSEN54-Related (TSEN54)
Carrier
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency (HSD17B3)
No disease-causing variants detected
2-Methyl-3-Hydroxybutyric Aciduria, X-Linked (HSD17B10)
No disease-causing variants detected
21-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP21A2)
No disease-causing variants detected
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMGCL)
No disease-causing variants detected
3-Methylcrotonyl-CoA Carboxylase Deficiency, MCCC1-Related (MCCC1)
No disease-causing variants detected
3-Methylcrotonyl-CoA Carboxylase Deficiency, MCCC2-Related (MCCC2)
No disease-causing variants detected
3-Methylglutaconic Aciduria Type III also known as Costeff Optic Atrophy (OPA3)
No disease-causing variants detected
3-Phosphoglycerate Dehydrogenase Deficiency, PHGDH-Related (PHGDH)
No disease-causing variants detected
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency (PTS)
No disease-causing variants detected
ABCA3-Related Disorders (ABCA3)
No disease-causing variants detected
Abetalipoproteinemia (MTTP)
No disease-causing variants detected
Achromatopsia (CNGB3)
No disease-causing variants detected
Acrodermatitis Enteropathica (SLC39A4)
No disease-causing variants detected
Acute Infantile Liver Failure (TRMU)
No disease-causing variants detected
Acyl-CoA Oxidase I Deficiency (ACOX1)
No disease-causing variants detected
Adenosine Deaminase Deficiency (ADA)
No disease-causing variants detected
ADGRV1-Related Disorders (ADGRV1)
No disease-causing variants detected
Adrenoleukodystrophy, X-Linked (ABCD1)
No disease-causing variants detected
Agammaglobulinemia, X-Linked (BTK)
No disease-causing variants detected
AHI1-Related Disorders (AHI1)
No disease-causing variants detected
Aicardi-Goutieres Syndrome (SAMHD1)
No disease-causing variants detected
Aicardi-Goutieres Syndrome 2 (RNASEH2B)
No disease-causing variants detected
Aicardi-Goutieres Syndrome 3 (RNASEH2C)
No disease-causing variants detected
Aicardi-Goutieres Syndrome 4 (RNASEH2A)
No disease-causing variants detected
Aldosterone Synthase Deficiency also known as Corticosterone Methyloxidase Deficiency (CYP11B2)
No disease-causing variants detected
ALG13-Related Disorders, X-Linked (ALG13)
No disease-causing variants detected
Alkaptonuria (HGD)
No disease-causing variants detected
Alpha-1 Antitrypsin Deficiency (SERPINA1)
No disease-causing variants detected
Alpha-Mannosidosis (MAN2B1)
No disease-causing variants detected
Alpha-N-Acetylgalactosaminidase Deficiency (NAGA)
No disease-causing variants detected
Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked (ATRX)
No disease-causing variants detected
Alport Syndrome, COL4A3-Related (COL4A3)
No disease-causing variants detected
Alport Syndrome, COL4A4-Related (COL4A4)
No disease-causing variants detected
Alport Syndrome, X-Linked (COL4A5)
No disease-causing variants detected
Alstrom Syndrome (ALMS1)
No disease-causing variants detected
Andermann Syndrome (SLC12A6)
No disease-causing variants detected
Androgen Insensitivity Syndrome, X-Linked (AR)
No disease-causing variants detected
Arginase Deficiency also known as Argininemia (ARG1)
No disease-causing variants detected
Argininosuccinic Aciduria (ASL)
No disease-causing variants detected
ARL6-Related Disorders (ARL6)
No disease-causing variants detected
Aromatase Deficiency (CYP19A1)
No disease-causing variants detected
Arthrogryposis, Mental Retardation, and Seizures (SLC35A3)
No disease-causing variants detected
ARX-Related Disorders, X-Linked (ARX)
No disease-causing variants detected
Asparagine Synthetase Deficiency (ASNS)
No disease-causing variants detected
Aspartylglucosaminuria (AGA)
No disease-causing variants detected
Ataxia With Vitamin E Deficiency (TTPA)
No disease-causing variants detected
Ataxia-Telangiectasia (ATM)
No disease-causing variants detected
Ataxia-Telangiectasia-Like Disorder 1 (MRE11)
No disease-causing variants detected
ATP8B1-Related Disorders (ATP8B1)
No disease-causing variants detected
Atransferrinemia (TF)
No disease-causing variants detected
Autosomal Recessive Congenital Ichthyosis, ABCA12-Related (ABCA12)
No disease-causing variants detected
AVPR2-Related Disorders, X-Linked (AVPR2)
No disease-causing variants detected
Bardet-Biedl Syndrome, BBS1-Related (BBS1)
No disease-causing variants detected
Bardet-Biedl Syndrome, BBS10-Related (BBS10)
No disease-causing variants detected
Bardet-Biedl Syndrome, BBS12-Related (BBS12)
No disease-causing variants detected
Bardet-Biedl Syndrome, BBS2-Related (BBS2)
No disease-causing variants detected
Bardet-Biedl Syndrome, BBS4-Related (BBS4)
No disease-causing variants detected
Bardet-Biedl Syndrome, BBS5-Related (BBS5)
No disease-causing variants detected
Bardet-Biedl Syndrome, BBS7-Related (BBS7)
No disease-causing variants detected
Bardet-Biedl Syndrome, BBS9-Related (BBS9)
No disease-causing variants detected
Barth Syndrome, X-Linked (TAZ)
No disease-causing variants detected
Bartter Syndrome Type 1 (SLC12A1)
No disease-causing variants detected
Bartter Syndrome Type 2 (KCNJ1)
No disease-causing variants detected
Bartter Syndrome, Type 4A (BSND)
No disease-causing variants detected
Bernard-Soulier Syndrome, Type A1 (GP1BA)
No disease-causing variants detected
Bernard-Soulier Syndrome, Type C (GP9)
No disease-causing variants detected
Beta-Ketothiolase Deficiency (ACAT1)
No disease-causing variants detected
Beta-mannosidosis (MANBA)
No disease-causing variants detected
Beta-Thalassemia, Sickle Cell Disease, and Beta-Globin Disorders (HBB)
No disease-causing mutations detected; normal hemoglobin analysis
Biopterin-Deficient Hyperphenylalaninemia, PCBD1-Related (PCBD1)
No disease-causing variants detected
Biopterin-Deficient Hyperphenylalaninemia, QDPR-Related (QDPR)
No disease-causing variants detected
Biotin-Responsive Basal Ganglia Disease (SLC19A3)
No disease-causing variants detected
Biotinidase Deficiency (BTD)
No disease-causing variants detected
Bloom Syndrome (BLM)
No disease-causing variants detected
BRIP1-Related Disorders (BRIP1)
No disease-causing variants detected
Brittle Cornea Syndrome, PRDM5-Related (PRDM5)
No disease-causing variants detected
Brittle Cornea Syndrome, ZNF469-Related (ZNF469)
No disease-causing variants detected
Canavan Disease (ASPA)
No disease-causing variants detected
Carbamoylphosphate Synthetase I Deficiency (CPS1)
No disease-causing variants detected
Cardioencephalomyopathy (SCO2)
No disease-causing variants detected
Carnitine Palmitoyltransferase IA Deficiency (CPT1A)
No disease-causing variants detected
Carnitine Palmitoyltransferase II Deficiency (CPT2)
No disease-causing variants detected
Carnitine-Acylcarnitine Translocase Deficiency (SLC25A20)
No disease-causing variants detected
Carpenter Syndrome (RAB23)
No disease-causing variants detected
Cartilage-Hair Hypoplasia (RMRP)
No disease-causing variants detected
Catecholaminergic Polymorphic Ventricular Tachycardia, CASQ2-Related (CASQ2)
No disease-causing variants detected
CC2D2A-Related Disorders (CC2D2A)
No disease-causing variants detected
Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 1 (VLDLR)
No disease-causing variants detected
Cerebral Creatine Deficiency Syndrome 1, X-Linked (SLC6A8)
No disease-causing variants detected
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (SNAP29)
No disease-causing variants detected
Cerebrotendinous Xanthomatosis (CYP27A1)
No disease-causing variants detected
Charcot-Marie-Tooth Disease, Type 4D (NDRG1)
No disease-causing variants detected
Charcot-Marie-Tooth Disease, Type 5 / Arts Syndrome, X-Linked (PRPS1)
No disease-causing variants detected
Charcot-Marie-Tooth Disease, X-Linked (GJB1)
No disease-causing variants detected
Chediak-Higashi Syndrome (LYST)
No disease-causing variants detected
Childhood-Onset Dystonia with Optic Atrophy and Basal Ganglia Abnormalities (MECR)
No disease-causing variants detected
Chondrodysplasia Punctata Type 1, X-Linked (ARSL)
No disease-causing variants detected
Choreoacanthocytosis (VPS13A)
No disease-causing variants detected
Choroidemia, X-Linked (CHM)
No disease-causing variants detected
Chromosome Analysis (Karyotype)
Normal male karyotype
Chronic Granulomatous Disease, CYBA-Related (CYBA)
No disease-causing variants detected
Chronic Granulomatous Disease, CYBB-Related, X-Linked (CYBB)
No disease-causing variants detected
Chronic Granulomatous Disease, NCF2-Related (NCF2)
No disease-causing variants detected
Citrin Deficiency (SLC25A13)
No disease-causing variants detected
Citrullinemia Type 1 (ASS1)
No disease-causing variants detected
Cobalamin F Deficiency (LMBRD1)
No disease-causing variants detected
Cockayne Syndrome Type A (ERCC8)
No disease-causing variants detected
Cockayne Syndrome Type B (ERCC6)
No disease-causing variants detected
Cohen Syndrome (VPS13B)
No disease-causing variants detected
COL11A2-Related Disorders (COL11A2)
No disease-causing variants detected
COL17A1-Related Disorders (COL17A1)
No disease-causing variants detected
Combined Malonic and Methylmalonic Aciduria (ACSF3)
No disease-causing variants detected
Combined Oxidative Phosphorylation Deficiency 1 (GFM1)
No disease-causing variants detected
Combined Oxidative Phosphorylation Deficiency 3 (TSFM)
No disease-causing variants detected
Combined Pituitary Hormone Deficiency 2 (PROP1)
No disease-causing variants detected
Combined Pituitary Hormone Deficiency 3 (LHX3)
No disease-causing variants detected
Combined Pituitary Hormone Deficiency, POU1F1-Related (POU1F1)
No disease-causing variants detected
Combined SAP Deficiency (PSAP)
No disease-causing variants detected
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency (CYP11B1)
No disease-causing variants detected
Congenital Adrenal Hyperplasia due to 17-Alpha-Hydroxylase Deficiency (CYP17A1)
No disease-causing variants detected
Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency (HSD3B2)
No disease-causing variants detected
Congenital Adrenal Hypoplasia, X-Linked (NR0B1)
No disease-causing variants detected
Congenital Adrenal Insufficiency (CYP11A1)
No disease-causing variants detected
Congenital Amegakaryocytic Thrombocytopenia (MPL)
No disease-causing variants detected
Congenital Disorder of Glycosylation Type 1a, PMM2-Related (PMM2)
No disease-causing variants detected
Congenital Disorder of Glycosylation Type 1b (MPI)
No disease-causing variants detected
Congenital Disorder of Glycosylation Type Ik (ALG1)
No disease-causing variants detected
Congenital Disorder of Glycosylation Type Iv (NGLY1)
No disease-causing variants detected
Congenital Disorder of Glycosylation, Type Ic (ALG6)
No disease-causing variants detected
Congenital Dyserythropoietic Anemia Type II (SEC23B)
No disease-causing variants detected
Congenital Hydrocephalus-1 (CCDC88C)
No disease-causing variants detected
Congenital Hypothyroidism, TSHB-Related (TSHB)
No disease-causing variants detected
Congenital Insensitivity to Pain with Anhidrosis (NTRK1)
No disease-causing variants detected
Congenital Myasthenic Syndrome (CHRNE)
No disease-causing variants detected
Congenital Myasthenic Syndrome (RAPSN)
No disease-causing variants detected
Congenital Myasthenic Syndrome, CHAT-Related (CHAT)
No disease-causing variants detected
Congenital Neutropenia (HAX1)
No disease-causing variants detected
Congenital Neutropenia, VPS45-Related (VPS45)
No disease-causing variants detected
Congenital Secretory Chloride Diarrhea (SLC26A3)
No disease-causing variants detected
Corneal Dystrophy and Perceptive Deafness (SLC4A11)
No disease-causing variants detected
CTSC-Related Disorders (CTSC)
No disease-causing variants detected
CYP1B1-Related Disorders (CYP1B1)
No disease-causing variants detected
CYP7B1-Related Disorders (CYP7B1)
No disease-causing variants detected
Cystic Fibrosis and Other CFTR-Related Disorders (CFTR)
No disease-causing variants detected
Cystinosis (CTNS)
No disease-causing variants detected
Cytochrome P450 Oxidoreductase Deficiency (POR)
No disease-causing variants detected
D-Bifunctional Protein Deficiency (HSD17B4)
No disease-causing variants detected
Deafness, Autosomal Recessive 77 (LOXHD1)
No disease-causing variants detected
Desbuquois Dysplasia Type 1 (CANT1)
No disease-causing variants detected
Developmental and Epileptic Encephalopathy, CAD-Related (CAD)
No disease-causing variants detected
DGUOK-Related Disorders (DGUOK)
No disease-causing variants detected
DOK7-Related Disorders (DOK7)
No disease-causing variants detected
Donnai-Barrow Syndrome (LRP2)
No disease-causing variants detected
Dubin-Johnson Syndrome (ABCC2)
No disease-causing variants detected
DUOX2-Related Disorders (DUOX2)
No disease-causing variants detected
DYNC2H1-Related Disorders (DYNC2H1)
No disease-causing variants detected
Dyskeratosis Congenita Spectrum Disorders, DKC1-Related, X-Linked (DKC1)
No disease-causing variants detected
Dyskeratosis Congenita Spectrum Disorders, TERT-Related (TERT)
No disease-causing variants detected
Dyskeratosis Congenita, RTEL1-Related (RTEL1)
No disease-causing variants detected
Dystrophic Epidermolysis Bullosa (COL7A1)
No disease-causing variants detected
Dystrophinopathies, DMD-Related, X-Linked (DMD)
No disease-causing variants detected
Ehlers-Danlos Syndrome, Kyphoscoliotic Type (PLOD1)
No disease-causing variants detected
Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2)
No disease-causing variants detected
Ellis-Van Creveld Syndrome, EVC-Related (EVC)
No disease-causing variants detected
Ellis-Van Creveld Syndrome, EVC2-Related (EVC2)
No disease-causing variants detected
Emery-Dreifuss Muscular Dystrophy, X-Linked (EMD)
No disease-causing variants detected
Enhanced S-Cone Syndrome (NR2E3)
No disease-causing variants detected
Epidermolysis Bullosa with Pyloric Atresia, ITGB4-Related (ITGB4)
No disease-causing variants detected
Epimerase Deficiency Galactosemia (GALE)
No disease-causing variants detected
ERCC2-Related Disorders (ERCC2)
No disease-causing variants detected
Ethylmalonic Encephalopathy (ETHE1)
No disease-causing variants detected
F5-Related Disorders (F5)
No disease-causing variants detected
Fabry Disease, X-Linked (GLA)
No disease-causing variants detected
Factor IX Deficiency, X-Linked (F9)
No disease-causing variants detected
Factor XI Deficiency (F11)
No disease-causing variants detected
Familial Dysautonomia (ELP1)
No disease-causing variants detected
Familial Hemophagocytic Lymphohistiocytosis Type 2 (PRF1)
No disease-causing variants detected
Familial Hemophagocytic Lymphohistiocytosis Type 3 (UNC13D)
No disease-causing variants detected
Familial Hemophagocytic Lymphohistiocytosis Type 4 (STX11)
No disease-causing variants detected
Familial Hemophagocytic Lymphohistiocytosis Type 5 (STXBP2)
No disease-causing variants detected
Familial Hypercholesterolemia (LDLR)
No disease-causing variants detected
Familial Hypercholesterolemia (LDLRAP1)
No disease-causing variants detected
Familial Hyperinsulinism and Other ABCC8-Related Disorders (ABCC8)
No disease-causing variants detected
Familial Hyperinsulinism and Other KCNJ11-Related Disorders (KCNJ11)
No disease-causing variants detected
Familial Mediterranean Fever (MEFV)
No disease-causing variants detected
Fanconi Anemia Type A (FANCA)
No disease-causing variants detected
Fanconi Anemia Type B, X-Linked (FANCB)
No disease-causing variants detected
Fanconi Anemia Type C (FANCC)
No disease-causing variants detected
Fanconi Anemia Type D2 (FANCD2)
No disease-causing variants detected
Fanconi Anemia Type E (FANCE)
No disease-causing variants detected
Fanconi Anemia Type I (FANCI)
No disease-causing variants detected
Fanconi Anemia Type L (FANCL)
No disease-causing variants detected
Fanconi Anemia, Type G (FANCG)
No disease-causing variants detected
FHL1-Related Disorders, X-Linked (FHL1)
No disease-causing variants detected
FKBP10-Related Disorders (FKBP10)
No disease-causing variants detected
FKTN-Related Disorders including Walker-Warburg Syndrome (FKTN)
No disease-causing variants detected
Foveal Hypoplasia, SLC38A8-Related (SLC38A8)
No disease-causing variants detected
FOXN1-Related Disorders (FOXN1)
No disease-causing variants detected
Fragile X Syndrome, X-Linked (FMR1)
No disease-causing mutations detected; CGG repeat number within normal range
Fraser Syndrome, FRAS1-Related (FRAS1)
No disease-causing variants detected
Fraser Syndrome, FREM2-Related (FREM2)
No disease-causing variants detected
Fraser Syndrome, GRIP1-Related (GRIP1)
No disease-causing variants detected
Fructose-1,6-Bisphosphatase Deficiency (FBP1)
No disease-causing variants detected
Fucosidosis (FUCA1)
No disease-causing variants detected
Fumarase Deficiency (FH)
No disease-causing variants detected
Galactokinase Deficiency (GALK1)
No disease-causing variants detected
Galactosemia, GALT-Related (GALT)
No disease-causing variants detected
Galactosialidosis (CTSA)
No disease-causing variants detected
GATM-Related Disorders (GATM)
No disease-causing variants detected
Gaucher Disease (GBA)
No disease-causing variants detected
GCH1-Related Disorders (GCH1)
No disease-causing variants detected
GDF5-Related Disorders (GDF5)
No disease-causing variants detected
Geroderma Osteodysplastica (GORAB)
No disease-causing variants detected
GHR-Related Disorders (GHR)
No disease-causing variants detected
Gitelman Syndrome (SLC12A3)
No disease-causing variants detected
GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness (GJB2)
No disease-causing variants detected
Glucose-6-Phosphate Dehydrogenase Deficiency, X-Linked (G6PD)
No disease-causing variants detected
Glutaric Acidemia Type 1 (GCDH)
No disease-causing variants detected
Glutaric Acidemia Type IIB (ETFB)
No disease-causing variants detected
Glutaric Acidemia, Type IIa (ETFA)
No disease-causing variants detected
Glutaric Acidemia, Type IIc (ETFDH)
No disease-causing variants detected
Glutathione Synthetase Deficiency (GSS)
No disease-causing variants detected
Glycine Encephalopathy, AMT-Related (AMT)
No disease-causing variants detected
Glycine Encephalopathy, GLDC-Related (GLDC)
No disease-causing variants detected
Glycogen Storage Disease Type Ia (G6PC)
No disease-causing variants detected
Glycogen Storage Disease Type Ib (SLC37A4)
No disease-causing variants detected
Glycogen Storage Disease Type III (AGL)
No disease-causing variants detected
Glycogen Storage Disease Type IXb (PHKB)
No disease-causing variants detected
Glycogen Storage Disease Type IXc (PHKG2)
No disease-causing variants detected
Glycogen Storage Disease Type V (PYGM)
No disease-causing variants detected
Glycogen Storage Disease, Type IV also known as Adult Polyglucosan Body Disease (GBE1)
No disease-causing variants detected
Glycogen Storage Disease, Type VII (PFKM)
No disease-causing variants detected
GM3 Synthase Deficiency (ST3GAL5)
No disease-causing variants detected
GRACILE Syndrome (BCS1L)
No disease-causing variants detected
Guanidinoacetate Methyltransferase Deficiency also known as Cerebral Creatine Deficiency Syndrome 2 (GAMT)
No disease-causing variants detected
GUCY2D-Related Disorders (GUCY2D)
No disease-causing variants detected
HCFC1-Related Disorders, X-Linked (HCFC1)
No disease-causing variants detected
Heme Oxygenase 1 Deficiency (HMOX1)
No disease-causing variants detected
Hemochromatosis, Type 3 (TFR2)
No disease-causing variants detected
Hemolytic Anemia, CD59-Mediated (CD59)
No disease-causing variants detected
Hereditary Fructose Intolerance (ALDOB)
No disease-causing variants detected
Hereditary Hemochromatosis (HJV)
No disease-causing variants detected
Hereditary Hemochromatosis Type 1 (HFE)
No disease-causing variants detected
Hereditary Hemochromatosis Type 2, HAMP-Related (HAMP)
No disease-causing variants detected
Hereditary Spastic Paraparesis 49 (TECPR2)
No disease-causing variants detected
Hermansky-Pudlak Syndrome Type 4 (HPS4)
No disease-causing variants detected
Hermansky-Pudlak Syndrome Type 5 (HPS5)
No disease-causing variants detected
Hermansky-Pudlak Syndrome Type 6 (HPS6)
No disease-causing variants detected
Hermansky-Pudlak Syndrome Type 8 (BLOC1S3)
No disease-causing variants detected
Hermansky-Pudlak Syndrome Type 9 (BLOC1S6)
No disease-causing variants detected
Hermansky-Pudlak Syndrome, Type 1 (HPS1)
No disease-causing variants detected
Hermansky-Pudlak Syndrome, Type 3 (HPS3)
No disease-causing variants detected
Holocarboxylase Synthetase Deficiency (HLCS)
No disease-causing variants detected
Homocystinuria (CBS)
No disease-causing variants detected
Homocystinuria due to Cobalamin G Deficiency (MTR)
No disease-causing variants detected
Homocystinuria due to MTHFR Deficiency (MTHFR)
No disease-causing variants detected
Homocystinuria, Cobalamin E Type (MTRR)
No disease-causing variants detected
HPRT1-Related Disorders, X-Linked (HPRT1)
No disease-causing variants detected
Hydrolethalus Syndrome (HYLS1)
No disease-causing variants detected
Hyper-IgM Immunodeficiency, CD40-Related (CD40)
No disease-causing variants detected
Hyper-IgM Immunodeficiency, X-Linked (CD40LG)
No disease-causing variants detected
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (SLC25A15)
No disease-causing variants detected
Hyperphosphatemic Familial Tumoral Calcinosis, GALNT3-Related (GALNT3)
No disease-causing variants detected
Hypohidrotic Ectodermal Dysplasia, X-Linked (EDA)
No disease-causing variants detected
Hypomyelinating Leukodystrophy-12 (VPS11)
No disease-causing variants detected
Hypophosphatasia, Autosomal Recessive (ALPL)
No disease-causing variants detected
Ichthyosis Prematurity Syndrome (SLC27A4)
No disease-causing variants detected
IGHMBP2-Related Disorders (IGHMBP2)
No disease-causing variants detected
IKBKB-Related Disorders (IKBKB)
No disease-causing variants detected
Imerslund-Gr Sbeck Syndrome (AMN)
No disease-causing variants detected
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 (DNMT3B)
No disease-causing variants detected
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 (ZBTB24)
No disease-causing variants detected
Inclusion Body Myopathy 2 (GNE)
No disease-causing variants detected
Isolated Ectopia Lentis (ADAMTSL4)
No disease-causing variants detected
Isovaleric Acidemia (IVD)
No disease-causing variants detected
ITGB3-Related Disorders (ITGB3)
No disease-causing variants detected
Johanson-Blizzard Syndrome (UBR1)
No disease-causing variants detected
Joubert Syndrome 2 (TMEM216)
No disease-causing variants detected
Joubert Syndrome 7 also known as Meckel Syndrome 5 (RPGRIP1L)
No disease-causing variants detected
Junctional Epidermolysis Bullosa (LAMA3)
No disease-causing variants detected
Junctional Epidermolysis Bullosa (LAMB3)
No disease-causing variants detected
Junctional Epidermolysis Bullosa (LAMC2)
No disease-causing variants detected
Junctional Epidermolysis Bullosa with Pyloric Atresia, ITGA6-Related (ITGA6)
No disease-causing variants detected
Juvenile Retinoschisis, X-Linked (RS1)
No disease-causing variants detected
Krabbe Disease (GALC)
No disease-causing variants detected
L1 Syndrome, X-Linked (L1CAM)
No disease-causing variants detected
Leber Congenital Amaurosis (AIPL1)
No disease-causing variants detected
Leber Congenital Amaurosis 10 and Other CEP290-Related Ciliopathies (CEP290)
No disease-causing variants detected
Leber Congenital Amaurosis 13 (RDH12)
No disease-causing variants detected
Leber Congenital Amaurosis 2 also known as Retinitis Pigmentosa 20 (RPE65)
No disease-causing variants detected
Leber Congenital Amaurosis 5 (LCA5)
No disease-causing variants detected
Leber Congenital Amaurosis 8 also known as Retinitis Pigmentosa 12 (CRB1)
No disease-causing variants detected
Leigh Syndrome, French-Canadian Type (LRPPRC)
No disease-causing variants detected
Lethal Congenital Contracture Syndrome 1 (GLE1)
No disease-causing variants detected
Leukoencephalopathy with Vanishing White Matter, EIF2B1-Related (EIF2B1)
No disease-causing variants detected
Leukoencephalopathy with Vanishing White Matter, EIF2B2-Related (EIF2B2)
No disease-causing variants detected
Leukoencephalopathy with Vanishing White Matter, EIF2B3-Related (EIF2B3)
No disease-causing variants detected
Leukoencephalopathy with Vanishing White Matter, EIF2B4-Related (EIF2B4)
No disease-causing variants detected
LIG4 Syndrome (LIG4)
No disease-causing variants detected
Limb-Girdle Muscular Dystrophy Type 2A also known as Calpainopathy (CAPN3)
No disease-causing variants detected
Limb-Girdle Muscular Dystrophy Type 2B also known as Dysferlinopathy (DYSF)
No disease-causing variants detected
Limb-Girdle Muscular Dystrophy Type 2C also known as Gamma-Sarcoglycanopathy (SGCG)
No disease-causing variants detected
Limb-Girdle Muscular Dystrophy Type 2D also known as Alpha-Sarcoglycanopathy (SGCA)
No disease-causing variants detected
Limb-Girdle Muscular Dystrophy Type 2E also known as Beta-Sarcoglycanopathy (SGCB)
No disease-causing variants detected
Limb-Girdle Muscular Dystrophy Type 2F also known as Delta-Sarcoglycanopathy (SGCD)
No disease-causing variants detected
Limb-Girdle Muscular Dystrophy Type 2I (FKRP)
No disease-causing variants detected
Lipoid Adrenal Hyperplasia (STAR)
No disease-causing variants detected
Lipoprotein Lipase Deficiency (LPL)
No disease-causing variants detected
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA)
No disease-causing variants detected
LRAT-Related Disorders (LRAT)
No disease-causing variants detected
Lysinuric Protein Intolerance (SLC7A7)
No disease-causing variants detected
Lysosomal Acid Lipase Deficiency including Wolman Disease and Cholesteryl Ester Storage Disease (LIPA)
No disease-causing variants detected
Major Histocompatibility Complex Class II Deficiency also known as Bare Lymphocyte Syndrome Type II (CIITA)
No disease-causing variants detected
Malonyl-CoA Decarboxylase Deficiency (MLYCD)
No disease-causing variants detected
Maple Syrup Urine Disease Type 1A (BCKDHA)
No disease-causing variants detected
Maple Syrup Urine Disease Type 1B (BCKDHB)
No disease-causing variants detected
Maple Syrup Urine Disease Type 2 (DBT)
No disease-causing variants detected
Maple Syrup Urine Disease Type 3 also known as Dihyrolipoamide Dehydrogenase Deficiency (DLD)
No disease-causing variants detected
MECP2-Related Disorders, X-Linked (MECP2)
No disease-causing variants detected
Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)
No disease-causing variants detected
Medium/Short-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (HADH)
No disease-causing variants detected
MEDNIK Syndrome (AP1S1)
No disease-causing variants detected
Megalencephalic Leukoencephalopathy With Subcortical Cysts Type 1 (MLC1)
No disease-causing variants detected
Menkes Disease and Other ATP7A-Related Disorders, X-Linked (ATP7A)
No disease-causing variants detected
Merosin-Deficient Muscular Dystrophy (LAMA2)
No disease-causing variants detected
Metabolic Crises with Rhabdomyolysis, Cardiac Arrhythmias and Neurodegeneration (TANGO2)
No disease-causing variants detected
Metachromatic Leukodystrophy (ARSA)
No disease-causing variants detected
Methylmalonic Acidemia (MMAA)
No disease-causing variants detected
Methylmalonic Acidemia (MMAB)
No disease-causing variants detected
Methylmalonic Acidemia (MUT)
No disease-causing variants detected
Methylmalonic Acidemia, MCEE-Related (MCEE)
No disease-causing variants detected
Methylmalonic Aciduria and Homocystinuria, Cobalamin C Type (MMACHC)
No disease-causing variants detected
Methylmalonic Aciduria and Homocystinuria, Cobalamin D Type (MMADHC)
No disease-causing variants detected
Microcephalic Osteodysplastic Primordial Dwarfism Type II (PCNT)
No disease-causing variants detected
Microphthalmia and Anophthalmia (VSX2)
No disease-causing variants detected
Mitochondrial Complex I Deficiency (ACAD9)
No disease-causing variants detected
Mitochondrial Complex I Deficiency 1 (NDUFS4)
No disease-causing variants detected
Mitochondrial Complex I Deficiency 10 (NDUFAF2)
No disease-causing variants detected
Mitochondrial Complex I Deficiency 12 (PET100)
No disease-causing variants detected
Mitochondrial Complex I Deficiency 16 (NDUFAF5)
No disease-causing variants detected
Mitochondrial Complex I Deficiency 19 (FOXRED1)
No disease-causing variants detected
Mitochondrial Complex I Deficiency 3 (NDUFS7)
No disease-causing variants detected
Mitochondrial Complex I Deficiency 4 (NDUFV1)
No disease-causing variants detected
Mitochondrial Complex I Deficiency 6 (COX15)
No disease-causing variants detected
Mitochondrial Complex I Deficiency, NDUFS6-Related (NDUFS6)
No disease-causing variants detected
Mitochondrial DNA Depletion Syndrome 6 also known as Navajo Neurohepatopathy (MPV17)
No disease-causing variants detected
Mitochondrial DNA Depletion Syndrome-2 (TK2)
No disease-causing variants detected
Mitochondrial Myopathy and Sideroblastic Anemia 1 (PUS1)
No disease-causing variants detected
Mitochondrial Neurogastrointestinal Encephalopathy Disease (TYMP)
No disease-causing variants detected
Mitochondrial Trifunctional Protein Deficiency, HADHB-Related (HADHB)
No disease-causing variants detected
MKKS-Related Disorders (MKKS)
No disease-causing variants detected
MKS1-Related Disorders, including Bardet-Biedl Syndrome 13, Joubert Syndrome 28, and Meckel Syndrome 1 (MKS1)
No disease-causing variants detected
Molybdenum Cofactor Deficiency, MOCS1-Related (MOCS1)
No disease-causing variants detected
Molybdenum Cofactor Deficiency, MOCS2A-Related (MOCS2A)
No disease-causing variants detected
Molybdenum Cofactor Deficiency, MOCS2B-Related (MOCS2B)
No disease-causing variants detected
Mucolipidosis II and IIIA (GNPTAB)
No disease-causing variants detected
Mucolipidosis III Gamma (GNPTG)
No disease-causing variants detected
Mucolipidosis Type IV (MCOLN1)
No disease-causing variants detected
Mucopolysaccharidosis Type I also known as Hurler Syndrome (IDUA)
No disease-causing variants detected
Mucopolysaccharidosis Type II also known as Hunter Syndrome, X-Linked (IDS)
No disease-causing variants detected
Mucopolysaccharidosis Type IIIA also known as Sanfilippo A Syndrome (SGSH)
No disease-causing variants detected
Mucopolysaccharidosis Type IIIB also known as Sanfilippo B Syndrome (NAGLU)
No disease-causing variants detected
Mucopolysaccharidosis Type IIIC also known as Sanfilippo C Syndrome (HGSNAT)
No disease-causing variants detected
Mucopolysaccharidosis Type IIID (GNS)
No disease-causing variants detected
Mucopolysaccharidosis Type IVA (GALNS)
No disease-causing variants detected
Mucopolysaccharidosis Type IVb also known as GM1 Gangliosidosis (GLB1)
No disease-causing variants detected
Mucopolysaccharidosis Type VI (ARSB)
No disease-causing variants detected
Mucopolysaccharidosis Type VII (GUSB)
No disease-causing variants detected
Mucopolysaccharidosistype IX (HYAL1)
No disease-causing variants detected
Mulibrey Nanism (TRIM37)
No disease-causing variants detected
Multiple Pterygium Syndrome (CHRNG)
No disease-causing variants detected
Multiple Sulphatase Deficiency (SUMF1)
No disease-causing variants detected
Muscle-Eye-Brain Disease (POMGNT1)
No disease-causing variants detected
Muscular Dystrophy-Dystroglycanopathy, LARGE1-Related (LARGE1)
No disease-causing variants detected
Muscular Dystrophy-Dystroglycanopathy, POMT1-Related (POMT1)
No disease-causing variants detected
Muscular Dystrophy-Dystroglycanopathy, POMT2-Related (POMT2)
No disease-causing variants detected
Muscular Dystrophy-Dystroglycanopathy, RXYLT1-Related (RXYLT1)
No disease-causing variants detected
MUSK-Related Disorders (MUSK)
No disease-causing variants detected
MVK-Related Disorders (MVK)
No disease-causing variants detected
Myotonia Congenita (CLCN1)
No disease-causing variants detected
Myotubular Myopathy, X-Linked (MTM1)
No disease-causing variants detected
N-Acetylglutamate Synthase Deficiency (NAGS)
No disease-causing variants detected
Nemaline Myopathy 2 (NEB)
No disease-causing variants detected
Nephrogenic Diabetes Insipidus, Type II (AQP2)
No disease-causing variants detected
Nephronophthisis, INVS-Related (INVS)
No disease-causing variants detected
Nephronophthisis, NPHP1-Related (NPHP1)
No disease-causing variants detected
Nephrotic Syndrome, NPHS1-Related also known as Congenital Finnish Nephrosis (NPHS1)
No disease-causing variants detected
Nephrotic Syndrome, NPHS2-Related also known as Steroid-Resistant Nephrotic Syndrome (NPHS2)
No disease-causing variants detected
Neuronal Ceroid Lipofuscinosis Type 10 (CTSD)
No disease-causing variants detected
Neuronal Ceroid-Lipofuscinosis, CLN3-Related (CLN3)
No disease-causing variants detected
Neuronal Ceroid-Lipofuscinosis, CLN5-Related (CLN5)
No disease-causing variants detected
Neuronal Ceroid-Lipofuscinosis, CLN6-Related (CLN6)
No disease-causing variants detected
Neuronal Ceroid-Lipofuscinosis, CLN8-Related also known as Northern Epilepsy (CLN8)
No disease-causing variants detected
Neuronal Ceroid-Lipofuscinosis, MFSD8-Related (MFSD8)
No disease-causing variants detected
Neuronal Ceroid-Lipofuscinosis, PPT1-Related (PPT1)
No disease-causing variants detected
Neuronal Ceroid-Lipofuscinosis, TPP1-Related (TPP1)
No disease-causing variants detected
Niemann-Pick Disease Type A/B (SMPD1)
No disease-causing variants detected
Niemann-Pick Disease Type C, NPC1-Related (NPC1)
No disease-causing variants detected
Niemann-Pick Disease Type C, NPC2-Related (NPC2)
No disease-causing variants detected
Nijmegen Breakage Syndrome (NBN)
No disease-causing variants detected
Nonsyndromic Deafness, MYO15A-Related (MYO15A)
No disease-causing variants detected
Nonsyndromic Deafness, OTOA-Related (OTOA)
No disease-causing variants detected
Nonsyndromic Deafness, OTOF-Related (OTOF)
No disease-causing variants detected
Nonsyndromic Deafness, SYNE4-Related (SYNE4)
No disease-causing variants detected
Nonsyndromic Deafness, TMC1-Related (TMC1)
No disease-causing variants detected
Nonsyndromic Intellectual Disability, CC2D1A-Related (CC2D1A)
No disease-causing variants detected
NSMCE3 Deficiency (NSMCE3)
No disease-causing variants detected
OCRL-Related Disorders, X-Linked (OCRL)
No disease-causing variants detected
Oculocutaneous Albinism Type 2 (OCA2)
No disease-causing variants detected
Oculocutaneous Albinism Type 3 (TYRP1)
No disease-causing variants detected
Oculocutaneous Albinism Type 4 (SLC45A2)
No disease-causing variants detected
Oculocutaneous Albinism Types 1A and 1B (TYR)
No disease-causing variants detected
Odonto-Onycho-Dermal Dysplasia also known as Schopf-Schulz-Passarge Syndrome (WNT10A)
No disease-causing variants detected
Omenn Syndrome and Severe Combined Immunodeficiency, Athabaskan-Type (DCLRE1C)
No disease-causing variants detected
Omenn Syndrome, RAG2-Related (RAG2)
No disease-causing variants detected
Opitz GBBB Syndrome, MID1-Related, X-Linked (MID1)
No disease-causing variants detected
Ornithine Aminotransferase Deficiency (OAT)
No disease-causing variants detected
Ornithine Transcarbamylase Deficiency, X-Linked (OTC)
No disease-causing variants detected
Osteochondrodysplasias, Sulfate Transporter-Related (SLC26A2)
No disease-causing variants detected
Osteogenesis Imperfecta, BMP1-Related (BMP1)
No disease-causing variants detected
Osteogenesis Imperfecta, CRTAP-Related (CRTAP)
No disease-causing variants detected
Osteogenesis Imperfecta, P3H1-Related (P3H1)
No disease-causing variants detected
Osteopetrosis Type 1 (TCIRG1)
No disease-causing variants detected
OSTM1 Deficiency Associated Osteopetrosis (OSTM1)
No disease-causing variants detected
Pantothenate Kinase-Associated Neurodegeneration (PANK2)
No disease-causing variants detected
Parkinson Disease 15 (FBXO7)
No disease-causing variants detected
Pendred Syndrome (SLC26A4)
No disease-causing variants detected
Peroxisome Biogenesis Disorder, Type 3 (PEX12)
No disease-causing variants detected
PEX5-Related Disorders (PEX5)
No disease-causing variants detected
PGM3-Gongenital Disorder of Glycosylation (PGM3)
No disease-causing variants detected
Phenylalanine Hydroxylase Deficiency also known as Phenylketonuria (PAH)
No disease-causing variants detected
PIGN-Congenital Disorder of Glycosylation (PIGN)
No disease-causing variants detected
PJVK-Related Disorders (PJVK)
No disease-causing variants detected
PLA2G6-Related Disorders (PLA2G6)
No disease-causing variants detected
PLEKHG5-Related Disorders (PLEKHG5)
No disease-causing variants detected
PLP1-Related Disorders, X-Linked (PLP1)
No disease-causing variants detected
POLG-Related Disorders (POLG)
No disease-causing variants detected
Polycystic Kidney Disease, Autosomal Recessive (PKHD1)
No disease-causing variants detected
Polyglandular Autoimmune Syndrome Type 1 (AIRE)
No disease-causing variants detected
Polymicrogyria (ADGRG1)
No disease-causing variants detected
Pompe Disease also known as Glycogen Storage Disease Type II (GAA)
No disease-causing variants detected
Pontocerebellar Hypoplasia Type 1A (VRK1)
No disease-causing variants detected
Pontocerebellar Hypoplasia Type 1B (EXOSC3)
No disease-causing variants detected
Pontocerebellar Hypoplasia Type 6 (RARS2)
No disease-causing variants detected
Postnatal Progressive Microcephaly also known as Infantile Cerebral and Cerebellar Atrophy (MED17)
No disease-causing variants detected
Primary Carnitine Deficiency (SLC22A5)
No disease-causing variants detected
Primary Ciliary Dyskinesia, CCDC103-Related (CCDC103)
No disease-causing variants detected
Primary Ciliary Dyskinesia, CCDC39-Related (CCDC39)
No disease-causing variants detected
Primary Ciliary Dyskinesia, DNAH11-Related (DNAH11)
No disease-causing variants detected
Primary Ciliary Dyskinesia, DNAH5-Related (DNAH5)
No disease-causing variants detected
Primary Ciliary Dyskinesia, DNAI1-Related (DNAI1)
No disease-causing variants detected
Primary Ciliary Dyskinesia, DNAI2-Related (DNAI2)
No disease-causing variants detected
Primary Hyperoxaluria Type 1 (AGXT)
No disease-causing variants detected
Primary Hyperoxaluria Type 2 (GRHPR)
No disease-causing variants detected
Primary Hyperoxaluria, Type 3 (HOGA1)
No disease-causing variants detected
Primary Microcephaly, MCPH1-Related (MCPH1)
No disease-causing variants detected
Progressive Cerebello-Cerebral Atrophy (SEPSECS)
No disease-causing variants detected
Progressive Early-Onset Encepahlopathy with Brain Atrophy and Thin Corpus Callosum (TBCD)
No disease-causing variants detected
Progressive Familial Intrahepatic Cholestasis 3 (ABCB4)
No disease-causing variants detected
Progressive Familial Intrahepatic Cholestasis Type 2 (ABCB11)
No disease-causing variants detected
Progressive Pseudorheumatoid Dysplasia (WISP3)
No disease-causing variants detected
Prolidase Deficiency (PEPD)
No disease-causing variants detected
Propionic Acidemia, PCCA-Related (PCCA)
No disease-causing variants detected
Propionic Acidemia, PCCB-Related (PCCB)
No disease-causing variants detected
Protein-Losing Enteropathy (DGAT1)
No disease-causing variants detected
Prothrombin-Related Thrombophilia (F2)
No disease-causing variants detected
Pycnodysostosis (CTSK)
No disease-causing variants detected
Pyridoxal 5'-Phosphate-Dependent Epilepsy (PNPO)
No disease-causing variants detected
Pyridoxine-Dependent Epilepsy, ALDH7A1-Related (ALDH7A1)
No disease-causing variants detected
Pyruvate Carboxylase Deficiency (PC)
No disease-causing variants detected
Pyruvate Dehydrogenase E1-Alpha Deficiency, X-Linked (PDHA1)
No disease-causing variants detected
Pyruvate Dehydrogenase E1-Beta Deficiency (PDHB)
No disease-causing variants detected
Refsum Disease (PHYH)
No disease-causing variants detected
Renal Tubular Acidosis and Deafness (ATP6V1B1)
No disease-causing variants detected
Retinitis Pigmentosa 2, X-Linked (RP2)
No disease-causing variants detected
Retinitis Pigmentosa 25 (EYS)
No disease-causing variants detected
Retinitis Pigmentosa 26 (CERKL)
No disease-causing variants detected
Retinitis Pigmentosa 28 (FAM161A)
No disease-causing variants detected
Retinitis Pigmentosa 36 (PRCD)
No disease-causing variants detected
Retinitis Pigmentosa 59 (DHDDS)
No disease-causing variants detected
Retinitis Pigmentosa 62 (MAK)
No disease-causing variants detected
Rhizomelic Chondrodysplasia Punctata Type 1 (PEX7)
No disease-causing variants detected
Rhizomelic Chondrodysplasia Punctata Type 2 (GNPAT)
No disease-causing variants detected
Rhizomelic Chondrodysplasia Punctata Type 3 (AGPS)
No disease-causing variants detected
RLBP1-Related Disorders (RLBP1)
No disease-causing variants detected
Roberts Syndrome (ESCO2)
No disease-causing variants detected
RYR1-Related Disorders (RYR1)
No disease-causing variants detected
Salla Disease (SLC17A5)
No disease-causing variants detected
SAMD9-Related Disorders (SAMD9)
No disease-causing variants detected
Sandhoff Disease (HEXB)
No disease-causing variants detected
Schimke Immunoosseous Dysplasia (SMARCAL1)
No disease-causing variants detected
Seckel Syndrome, CEP152-Related (CEP152)
No disease-causing variants detected
Sepiapterin Reductase Deficiency (SPR)
No disease-causing variants detected
Severe Combined Immunodeficiency due to CD3-Delta Deficiency (CD3D)
No disease-causing variants detected
Severe Combined Immunodeficiency due to CD3-Epsilon Deficiency (CD3E)
No disease-causing variants detected
Severe Combined Immunodeficiency due to CD45 Deficiency (PTPRC)
No disease-causing variants detected
Severe Combined Immunodeficiency due to IL7R-Alpha Deficiency (IL7R)
No disease-causing variants detected
Severe Combined Immunodeficiency due to JAK3 Deficiency (JAK3)
No disease-causing variants detected
Severe Combined Immunodeficiency due to RAG1 Deficiency (RAG1)
No disease-causing variants detected
Severe Combined Immunodeficiency, X-Linked (IL2RG)
No disease-causing variants detected
Severe Congenital Neutropenia due to G6PC3 Deficiency (G6PC3)
No disease-causing variants detected
Sialidosis (NEU1)
No disease-causing variants detected
Sjogren-Larsson Syndrome (ALDH3A2)
No disease-causing variants detected
Smith-Lemli-Opitz Syndrome (DHCR7)
No disease-causing variants detected
Spastic Ataxia of Charlevoix-Saguenay, Autosomal Recessive (SACS)
No disease-causing variants detected
Spastic Paraplegia, Type 15 (ZFYVE26)
No disease-causing variants detected
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SLC1A4)
No disease-causing variants detected
SPG11-Related Disorders (SPG11)
No disease-causing variants detected
Spinal Muscular Atrophy (SMN1)
No disease-causing mutations detected (2 copies detected)
Spinocerebellar Ataxia, ANO10-Related (ANO10)
No disease-causing variants detected
Spondylocostal Dysostosis, DLL3-Related (DLL3)
No disease-causing variants detected
Spondylothoracic Dysostosis (MESP2)
No disease-causing variants detected
Steel Syndrome (COL27A1)
No disease-causing variants detected
Steroid 5-Alpha-Reductase Deficiency (SRD5A2)
No disease-causing variants detected
Stuve-Wiedemann Syndrome (LIFR)
No disease-causing variants detected
Sulfite Oxidase Deficiency (SUOX)
No disease-causing variants detected
SURF1-Related Disorders (SURF1)
No disease-causing variants detected
Tay-Sachs Disease also known as Hexosaminidase A Deficiency (HEXA)
No disease-causing variants detected
TBCE-Related Disorders (TBCE)
No disease-causing variants detected
TGM1-Related Autosomal Recessive Congenital Ichthyosis (TGM1)
No disease-causing variants detected
Thiamine-Responsive Megaloblastic Anemia (SLC19A2)
No disease-causing variants detected
Thyroid Dyshormonogenesis, SLC5A5-Related (SLC5A5)
No disease-causing variants detected
Thyroid Dyshormonogenesis, TG-Related (TG)
No disease-causing variants detected
Thyroid Dyshormonogenesis, TPO-Related (TPO)
No disease-causing variants detected
TMEM67-Related Disorders (TMEM67)
No disease-causing variants detected
Transcobalamin II Deficiency (TCN2)
No disease-causing variants detected
TREX1-Related Disorders (TREX1)
No disease-causing variants detected
Trichohepatoenteric Syndrome, SKIC2-Related (SKIC2)
No disease-causing variants detected
Trichohepatoenteric Syndrome, TTC37-Related (TTC37)
No disease-causing variants detected
TRIM32-Related Disorders (TRIM32)
No disease-causing variants detected
Trimethylaminuria (FMO3)
No disease-causing variants detected
Triple A Syndrome (AAAS)
No disease-causing variants detected
TSHR-Related Disorders (TSHR)
No disease-causing variants detected
TULP1-Related Disorders (TULP1)
No disease-causing variants detected
Tyrosine Hydroxylase Deficiency (TH)
No disease-causing variants detected
Tyrosinemia Type 1 (FAH)
No disease-causing variants detected
Tyrosinemia Type III (HPD)
No disease-causing variants detected
Tyrosinemia, Type II (TAT)
No disease-causing variants detected
Usher Syndrome Type IB (MYO7A)
No disease-causing variants detected
Usher Syndrome Type IC (USH1C)
No disease-causing variants detected
Usher Syndrome Type ID (CDH23)
No disease-causing variants detected
Usher Syndrome Type IF (PCDH15)
No disease-causing variants detected
Usher Syndrome Type IIA (USH2A)
No disease-causing variants detected
Usher Syndrome Type IIIA (CLRN1)
No disease-causing variants detected
Vanishing White Matter Disease (EIF2B5)
No disease-causing variants detected
Very Long Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)
No disease-causing variants detected
Vici Syndrome (EPG5)
No disease-causing variants detected
Vitamin D-Dependent Rickets Type 1A (CYP27B1)
No disease-causing variants detected
Vitamin D-Dependent Rickets Type 2A (VDR)
No disease-causing variants detected
VPS53-Related Disorders (VPS53)
No disease-causing variants detected
Warsaw Syndrome (DDX11)
No disease-causing variants detected
WAS-Related Disorders, X-Linked (WAS)
No disease-causing variants detected
Werner Syndrome (WRN)
No disease-causing variants detected
Wilson Disease (ATP7B)
No disease-causing variants detected
Wolcott-Rallison Syndrome (EIF2AK3)
No disease-causing variants detected
Woodhouse-Sakati Syndrome (DCAF17)
No disease-causing variants detected
Xeroderma Pigmentosum, Group A (XPA)
No disease-causing variants detected
Xeroderma Pigmentosum, Group C (XPC)
No disease-causing variants detected
Xeroderma Pigmentosum, Variant Type (POLH)
No disease-causing variants detected
Zellweger Spectrum Disorder, PEX13-Related (PEX13)
No disease-causing variants detected
Zellweger Spectrum Disorder, PEX16-Related (PEX16)
No disease-causing variants detected
Zellweger Spectrum Disorder, PEX2-Related (PEX2)
No disease-causing variants detected
Zellweger Spectrum Disorder, PEX26-Related (PEX26)
No disease-causing variants detected
Zellweger Spectrum Disorder, PEX6-Related (PEX6)
No disease-causing variants detected
Zellweger Syndrome Spectrum (PEX1)
No disease-causing variants detected
Zellweger Syndrome Spectrum, PEX10- Related (PEX10)
No disease-causing variants detected