Over the years, Xytex has expanded genetic testing of donors as genetic knowledge and technology have advanced. As a result, not all donors have been tested for the same conditions or with the same methods. For more information about genetic testing view our Genetics FAQs.
This donor has been evaluated for carrier status of the listed conditions. A negative result reduces, but does not eliminate, the likelihood of the donor being a carrier. If you are a known carrier of a genetic condition, please use the advanced search features to find donors who have tested negative for the condition(s) that you carry. Click the relevant link below to download the donor's test reports to share with your physician and/or genetic counselor.
This donor's carrier testing included 569 genes.
Seckel Syndrome, CEP152-Related (CEP152)
Carrier
Severe Combined Immunodeficiency due to IL7R-Alpha Deficiency (IL7R)
Carrier
Thyroid Dyshormonogenesis, TPO-Related (TPO)
Carrier
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency (HSD17B3)
No disease-causing mutations detected
2-Methyl-3-Hydroxybutyric Aciduria, X-Linked (HSD17B10)
No disease-causing mutations detected
21-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP21A2)
No disease-causing mutations detected
3-Hydroxy-3-Methylglutaryl-CoA (HMG-CoA) Lyase Deficiency (HMGCL)
No disease-causing mutations detected
3-Methylcrotonyl-CoA Carboxylase Deficiency, MCCC1-Related (MCCC1)
No disease-causing mutations detected
3-Methylcrotonyl-CoA Carboxylase Deficiency, MCCC2-Related (MCCC2)
No disease-causing mutations detected
3-Methylglutaconic Aciduria Type III also known as Costeff Optic Atrophy (OPA3)
No disease-causing mutations detected
3-Phosphoglycerate Dehydrogenase Deficiency, PHGDH-Related (PHGDH)
No disease-causing mutations detected
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency (PTS)
No disease-causing mutations detected
ABCA3-Related Disorders (ABCA3)
No disease-causing mutations detected
ABCA4-Related Disorders (ABCA4)
No disease-causing mutations detected
Abetalipoproteinemia (MTTP)
No disease-causing mutations detected
Achromatopsia (CNGB3)
No disease-causing mutations detected
Acrodermatitis Enteropathica (SLC39A4)
No disease-causing mutations detected
Acute Infantile Liver Failure (TRMU)
No disease-causing mutations detected
Acyl-CoA Oxidase I Deficiency (ACOX1)
No disease-causing mutations detected
Adenosine Deaminase Deficiency (ADA)
No disease-causing mutations detected
ADGRV1-Related Disorders (ADGRV1)
No disease-causing mutations detected
Adrenoleukodystrophy, X-Linked (ABCD1)
No disease-causing mutations detected
Agammaglobulinemia, X-Linked (BTK)
No disease-causing mutations detected
AHI1-Related Disorders (AHI1)
No disease-causing mutations detected
Aicardi-Goutieres Syndrome (SAMHD1)
No disease-causing mutations detected
Aicardi-Goutieres Syndrome 2 (RNASEH2B)
No disease-causing mutations detected
Aicardi-Goutieres Syndrome 3 (RNASEH2C)
No disease-causing mutations detected
Aicardi-Goutieres Syndrome 4 (RNASEH2A)
No disease-causing mutations detected
Aldosterone Synthase Deficiency also known as Corticosterone Methyloxidase Deficiency (CYP11B2)
No disease-causing mutations detected
ALG13-Related Disorders, X-Linked (ALG13)
No disease-causing mutations detected
Alkaptonuria (HGD)
No disease-causing mutations detected
Alpha-1 Antitrypsin Deficiency (SERPINA1)
No disease-causing mutations detected
Alpha-Mannosidosis (MAN2B1)
No disease-causing mutations detected
Alpha-N-Acetylgalactosaminidase Deficiency (NAGA)
No disease-causing mutations detected
Alpha-Thalassemia (HBA1/HBA2)
No disease-causing mutations detected; normal hemoglobin analysis
Alpha-Thalassemia Intellectual Disability Syndrome, X-Linked (ATRX)
No disease-causing mutations detected
Alport Syndrome, COL4A3-Related (COL4A3)
No disease-causing mutations detected
Alport Syndrome, COL4A4-Related (COL4A4)
No disease-causing mutations detected
Alport Syndrome, X-Linked (COL4A5)
No disease-causing mutations detected
Alstrom Syndrome (ALMS1)
No disease-causing mutations detected
Andermann Syndrome (SLC12A6)
No disease-causing mutations detected
Androgen Insensitivity Syndrome, X-Linked (AR)
No disease-causing mutations detected
Arginase Deficiency also known as Argininemia (ARG1)
No disease-causing mutations detected
Argininosuccinic Aciduria (ASL)
No disease-causing mutations detected
ARL6-Related Disorders (ARL6)
No disease-causing mutations detected
Aromatase Deficiency (CYP19A1)
No disease-causing mutations detected
Arthrogryposis, Mental Retardation, and Seizures (SLC35A3)
No disease-causing mutations detected
ARX-Related Disorders, X-Linked (ARX)
No disease-causing mutations detected
Asparagine Synthetase Deficiency (ASNS)
No disease-causing mutations detected
Aspartylglucosaminuria (AGA)
No disease-causing mutations detected
Ataxia With Vitamin E Deficiency (TTPA)
No disease-causing mutations detected
Ataxia-Telangiectasia (ATM)
No disease-causing mutations detected
Ataxia-Telangiectasia-Like Disorder 1 (MRE11)
No disease-causing mutations detected
ATP8B1-Related Disorders (ATP8B1)
No disease-causing mutations detected
Atransferrinemia (TF)
No disease-causing mutations detected
Autosomal Recessive Congenital Ichthyosis, ABCA12-Related (ABCA12)
No disease-causing mutations detected
AVPR2-Related Disorders, X-Linked (AVPR2)
No disease-causing mutations detected
Bardet-Biedl Syndrome, BBS1-Related (BBS1)
No disease-causing mutations detected
Bardet-Biedl Syndrome, BBS10-Related (BBS10)
No disease-causing mutations detected
Bardet-Biedl Syndrome, BBS12-Related (BBS12)
No disease-causing mutations detected
Bardet-Biedl Syndrome, BBS2-Related (BBS2)
No disease-causing mutations detected
Bardet-Biedl Syndrome, BBS4-Related (BBS4)
No disease-causing mutations detected
Bardet-Biedl Syndrome, BBS5-Related (BBS5)
No disease-causing mutations detected
Bardet-Biedl Syndrome, BBS7-Related (BBS7)
No disease-causing mutations detected
Bardet-Biedl Syndrome, BBS9-Related (BBS9)
No disease-causing mutations detected
Barth Syndrome, X-Linked (TAZ)
No disease-causing mutations detected
Bartter Syndrome Type 1 (SLC12A1)
No disease-causing mutations detected
Bartter Syndrome Type 2 (KCNJ1)
No disease-causing mutations detected
Bartter Syndrome, Type 4A (BSND)
No disease-causing mutations detected
Bernard-Soulier Syndrome, Type A1 (GP1BA)
No disease-causing mutations detected
Bernard-Soulier Syndrome, Type C (GP9)
No disease-causing mutations detected
Beta-Ketothiolase Deficiency (ACAT1)
No disease-causing mutations detected
Beta-mannosidosis (MANBA)
No disease-causing mutations 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 mutations detected
Biopterin-Deficient Hyperphenylalaninemia, QDPR-Related (QDPR)
No disease-causing mutations detected
Biotin-Responsive Basal Ganglia Disease (SLC19A3)
No disease-causing mutations detected
Biotinidase Deficiency (BTD)
No disease-causing mutations detected
Bloom Syndrome (BLM)
No disease-causing mutations detected
BRIP1-Related Disorders (BRIP1)
No disease-causing mutations detected
Brittle Cornea Syndrome, PRDM5-Related (PRDM5)
No disease-causing mutations detected
Brittle Cornea Syndrome, ZNF469-Related (ZNF469)
No disease-causing mutations detected
Canavan Disease (ASPA)
No disease-causing mutations detected
Carbamoylphosphate Synthetase I Deficiency (CPS1)
No disease-causing mutations detected
Cardioencephalomyopathy (SCO2)
No disease-causing mutations detected
Carnitine Palmitoyltransferase IA Deficiency (CPT1A)
No disease-causing mutations detected
Carnitine Palmitoyltransferase II Deficiency (CPT2)
No disease-causing mutations detected
Carnitine-Acylcarnitine Translocase Deficiency (SLC25A20)
No disease-causing mutations detected
Carpenter Syndrome (RAB23)
No disease-causing mutations detected
Cartilage-Hair Hypoplasia (RMRP)
No disease-causing mutations detected
Catecholaminergic Polymorphic Ventricular Tachycardia, CASQ2-Related (CASQ2)
No disease-causing mutations detected
CC2D2A-Related Disorders (CC2D2A)
No disease-causing mutations detected
Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 1 (VLDLR)
No disease-causing mutations detected
Cerebral Creatine Deficiency Syndrome 1, X-Linked (SLC6A8)
No disease-causing mutations detected
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (SNAP29)
No disease-causing mutations detected
Cerebrotendinous Xanthomatosis (CYP27A1)
No disease-causing mutations detected
Charcot-Marie-Tooth Disease, Type 4D (NDRG1)
No disease-causing mutations detected
Charcot-Marie-Tooth Disease, Type 5 / Arts Syndrome, X-Linked (PRPS1)
No disease-causing mutations detected
Charcot-Marie-Tooth Disease, X-Linked (GJB1)
No disease-causing mutations detected
Chediak-Higashi Syndrome (LYST)
No disease-causing mutations detected
Childhood-Onset Dystonia with Optic Atrophy and Basal Ganglia Abnormalities (MECR)
No disease-causing mutations detected
Chondrodysplasia Punctata Type 1, X-Linked (ARSE)
No disease-causing mutations detected
Choreoacanthocytosis (VPS13A)
No disease-causing mutations detected
Choroidemia, X-Linked (CHM)
No disease-causing mutations detected
Chromosome Analysis (Karyotype)
Normal male karyotype
Chronic Granulomatous Disease, CYBA-Related (CYBA)
No disease-causing mutations detected
Chronic Granulomatous Disease, CYBB-Related, X-Linked (CYBB)
No disease-causing mutations detected
Chronic Granulomatous Disease, NCF2-Related (NCF2)
No disease-causing mutations detected
Citrin Deficiency (SLC25A13)
No disease-causing mutations detected
Citrullinemia Type 1 (ASS1)
No disease-causing mutations detected
Cobalamin F Deficiency (LMBRD1)
No disease-causing mutations detected
co*ckayne Syndrome Type A (ERCC8)
No disease-causing mutations detected
co*ckayne Syndrome Type B (ERCC6)
No disease-causing mutations detected
Cohen Syndrome (VPS13B)
No disease-causing mutations detected
COL11A2-Related Disorders (COL11A2)
No disease-causing mutations detected
COL17A1-Related Disorders (COL17A1)
No disease-causing mutations detected
Combined Malonic and Methylmalonic Aciduria (ACSF3)
No disease-causing mutations detected
Combined Oxidative Phosphorylation Deficiency 1 (GFM1)
No disease-causing mutations detected
Combined Oxidative Phosphorylation Deficiency 3 (TSFM)
No disease-causing mutations detected
Combined Pituitary Hormone Deficiency 2 (PROP1)
No disease-causing mutations detected
Combined Pituitary Hormone Deficiency 3 (LHX3)
No disease-causing mutations detected
Combined Pituitary Hormone Deficiency, POU1F1-Related (POU1F1)
No disease-causing mutations detected
Combined SAP Deficiency (PSAP)
No disease-causing mutations detected
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency (CYP11B1)
No disease-causing mutations detected
Congenital Adrenal Hyperplasia due to 17-Alpha-Hydroxylase Deficiency (CYP17A1)
No disease-causing mutations detected
Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency (HSD3B2)
No disease-causing mutations detected
Congenital Adrenal Hypoplasia, X-Linked (NR0B1)
No disease-causing mutations detected
Congenital Adrenal Insufficiency (CYP11A1)
No disease-causing mutations detected
Congenital Amegakaryocytic Thrombocytopenia (MPL)
No disease-causing mutations detected
Congenital Disorder of Glycosylation Type 1a, PMM2-Related (PMM2)
No disease-causing mutations detected
Congenital Disorder of Glycosylation Type 1b (MPI)
No disease-causing mutations detected
Congenital Disorder of Glycosylation Type Ik (ALG1)
No disease-causing mutations detected
Congenital Disorder of Glycosylation Type Iv (NGLY1)
No disease-causing mutations detected
Congenital Disorder of Glycosylation, Type Ic (ALG6)
No disease-causing mutations detected
Congenital Dyserythropoietic Anemia Type II (SEC23B)
No disease-causing mutations detected
Congenital Hydrocephalus-1 (CCDC88C)
No disease-causing mutations detected
Congenital Hypothyroidism, TSHB-Related (TSHB)
No disease-causing mutations detected
Congenital Insensitivity to Pain with Anhidrosis (NTRK1)
No disease-causing mutations detected
Congenital Myasthenic Syndrome (CHRNE)
No disease-causing mutations detected
Congenital Myasthenic Syndrome (RAPSN)
No disease-causing mutations detected
Congenital Myasthenic Syndrome, CHAT-Related (CHAT)
No disease-causing mutations detected
Congenital Neutropenia (HAX1)
No disease-causing mutations detected
Congenital Neutropenia, VPS45-Related (VPS45)
No disease-causing mutations detected
Congenital Secretory Chloride Diarrhea (SLC26A3)
No disease-causing mutations detected
Corneal Dystrophy and Perceptive Deafness (SLC4A11)
No disease-causing mutations detected
CTSC-Related Disorders (CTSC)
No disease-causing mutations detected
CYP1B1-Related Disorders (CYP1B1)
No disease-causing mutations detected
CYP7B1-Related Disorders (CYP7B1)
No disease-causing mutations detected
Cystic Fibrosis and Other CFTR-Related Disorders (CFTR)
No disease-causing mutations detected
Cystinosis (CTNS)
No disease-causing mutations detected
Cytochrome P450 Oxidoreductase Deficiency (POR)
No disease-causing mutations detected
D-Bifunctional Protein Deficiency (HSD17B4)
No disease-causing mutations detected
Deafness, Autosomal Recessive 77 (LOXHD1)
No disease-causing mutations detected
Desbuquois Dysplasia Type 1 (CANT1)
No disease-causing mutations detected
Developmental and Epileptic Encephalopathy, CAD-Related (CAD)
No disease-causing mutations detected
DGUOK-Related Disorders (DGUOK)
No disease-causing mutations detected
DOK7-Related Disorders (DOK7)
No disease-causing mutations detected
Donnai-Barrow Syndrome (LRP2)
No disease-causing mutations detected
Dubin-Johnson Syndrome (ABCC2)
No disease-causing mutations detected
DUOX2-Related Disorders (DUOX2)
No disease-causing mutations detected
DYNC2H1-Related Disorders (DYNC2H1)
No disease-causing mutations detected
Dyskeratosis Congenita Spectrum Disorders, DKC1-Related, X-Linked (DKC1)
No disease-causing mutations detected
Dyskeratosis Congenita Spectrum Disorders, TERT-Related (TERT)
No disease-causing mutations detected
Dyskeratosis Congenita, RTEL1-Related (RTEL1)
No disease-causing mutations detected
Dystrophic Epidermolysis Bullosa (COL7A1)
No disease-causing mutations detected
Dystrophinopathies, DMD-Related, X-Linked (DMD)
No disease-causing mutations detected
Ehlers-Danlos Syndrome, Kyphoscoliotic Type (PLOD1)
No disease-causing mutations detected
Ehlers-Danlos Syndrome, Type VIIC (ADAMTS2)
No disease-causing mutations detected
Ellis-Van Creveld Syndrome, EVC-Related (EVC)
No disease-causing mutations detected
Ellis-Van Creveld Syndrome, EVC2-Related (EVC2)
No disease-causing mutations detected
Emery-Dreifuss Muscular Dystrophy, X-Linked (EMD)
No disease-causing mutations detected
Enhanced S-Cone Syndrome (NR2E3)
No disease-causing mutations detected
Epidermolysis Bullosa with Pyloric Atresia, ITGB4-Related (ITGB4)
No disease-causing mutations detected
Epimerase Deficiency Galactosemia (GALE)
No disease-causing mutations detected
ERCC2-Related Disorders (ERCC2)
No disease-causing mutations detected
Ethylmalonic Encephalopathy (ETHE1)
No disease-causing mutations detected
Fabry Disease, X-Linked (GLA)
No disease-causing mutations detected
Factor IX Deficiency, X-Linked (F9)
No disease-causing mutations detected
Factor V Leiden Thrombophilia (F5)
No disease-causing mutations detected
Factor XI Deficiency (F11)
No disease-causing mutations detected
Familial Dysautonomia (ELP1)
No disease-causing mutations detected
Familial Hemophagocytic Lymphohistiocytosis Type 2 (PRF1)
No disease-causing mutations detected
Familial Hemophagocytic Lymphohistiocytosis Type 3 (UNC13D)
No disease-causing mutations detected
Familial Hemophagocytic Lymphohistiocytosis Type 4 (STX11)
No disease-causing mutations detected
Familial Hemophagocytic Lymphohistiocytosis Type 5 (STXBP2)
No disease-causing mutations detected
Familial Hypercholesterolemia (LDLR)
No disease-causing mutations detected
Familial Hypercholesterolemia (LDLRAP1)
No disease-causing mutations detected
Familial Hyperinsulinism and Other ABCC8-Related Disorders (ABCC8)
No disease-causing mutations detected
Familial Hyperinsulinism and Other KCNJ11-Related Disorders (KCNJ11)
No disease-causing mutations detected
Familial Mediterranean Fever (MEFV)
No disease-causing mutations detected
Fanconi Anemia Type A (FANCA)
No disease-causing mutations detected
Fanconi Anemia Type B, X-Linked (FANCB)
No disease-causing mutations detected
Fanconi Anemia Type C (FANCC)
No disease-causing mutations detected
Fanconi Anemia Type D2 (FANCD2)
No disease-causing mutations detected
Fanconi Anemia Type E (FANCE)
No disease-causing mutations detected
Fanconi Anemia Type I (FANCI)
No disease-causing mutations detected
Fanconi Anemia Type L (FANCL)
No disease-causing mutations detected
Fanconi Anemia, Type G (FANCG)
No disease-causing mutations detected
FHL1-Related Disorders, X-Linked (FHL1)
No disease-causing mutations detected
FKBP10-Related Disorders (FKBP10)
No disease-causing mutations detected
FKTN-Related Disorders including Walker-Warburg Syndrome (FKTN)
No disease-causing mutations detected
Foveal Hypoplasia, SLC38A8-Related (SLC38A8)
No disease-causing mutations detected
FOXN1-Related Disorders (FOXN1)
No disease-causing mutations detected
Fragile X Syndrome (FMR1)
No disease-causing mutations detected; CGG repeat number within normal range
Fraser Syndrome, FRAS1-Related (FRAS1)
No disease-causing mutations detected
Fraser Syndrome, FREM2-Related (FREM2)
No disease-causing mutations detected
Fraser Syndrome, GRIP1-Related (GRIP1)
No disease-causing mutations detected
Fructose-1,6-Bisphosphatase Deficiency (FBP1)
No disease-causing mutations detected
Fucosidosis (FUCA1)
No disease-causing mutations detected
Fumarase Deficiency (FH)
No disease-causing mutations detected
Galactokinase Deficiency (GALK1)
No disease-causing mutations detected
Galactosemia, GALT-Related (GALT)
No disease-causing mutations detected
Galactosialidosis (CTSA)
No disease-causing mutations detected
GATM-Related Disorders (GATM)
No disease-causing mutations detected
Gaucher Disease (GBA)
No disease-causing mutations detected
GCH1-Related Disorders (GCH1)
No disease-causing mutations detected
GDF5-Related Disorders (GDF5)
No disease-causing mutations detected
Geroderma Osteodysplastica (GORAB)
No disease-causing mutations detected
GHR-Related Disorders (GHR)
No disease-causing mutations detected
Gitelman Syndrome (SLC12A3)
No disease-causing mutations detected
GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness (GJB2)
No disease-causing mutations detected
Glucose-6-Phosphate Dehydrogenase Deficiency, X-Linked (G6PD)
No disease-causing mutations detected
Glutaric Acidemia Type 1 (GCDH)
No disease-causing mutations detected
Glutaric Acidemia Type IIB (ETFB)
No disease-causing mutations detected
Glutaric Acidemia, Type IIa (ETFA)
No disease-causing mutations detected
Glutaric Acidemia, Type IIc (ETFDH)
No disease-causing mutations detected
Glutathione Synthetase Deficiency (GSS)
No disease-causing mutations detected
Glycine Encephalopathy, AMT-Related (AMT)
No disease-causing mutations detected
Glycine Encephalopathy, GLDC-Related (GLDC)
No disease-causing mutations detected
Glycogen Storage Disease Type Ia (G6PC)
No disease-causing mutations detected
Glycogen Storage Disease Type Ib (SLC37A4)
No disease-causing mutations detected
Glycogen Storage Disease Type III (AGL)
No disease-causing mutations detected
Glycogen Storage Disease Type IXb (PHKB)
No disease-causing mutations detected
Glycogen Storage Disease Type IXc (PHKG2)
No disease-causing mutations detected
Glycogen Storage Disease Type V (PYGM)
No disease-causing mutations detected
Glycogen Storage Disease, Type IV also known as Adult Polyglucosan Body Disease (GBE1)
No disease-causing mutations detected
Glycogen Storage Disease, Type VII (PFKM)
No disease-causing mutations detected
GM3 Synthase Deficiency (ST3GAL5)
No disease-causing mutations detected
GRACILE Syndrome (BCS1L)
No disease-causing mutations detected
Guanidinoacetate Methyltransferase Deficiency also known as Cerebral Creatine Deficiency Syndrome 2 (GAMT)
No disease-causing mutations detected
GUCY2D-Related Disorders (GUCY2D)
No disease-causing mutations detected
HCFC1-Related Disorders, X-Linked (HCFC1)
No disease-causing mutations detected
Heme Oxygenase 1 Deficiency (HMOX1)
No disease-causing mutations detected
Hemochromatosis, Type 3 (TFR2)
No disease-causing mutations detected
Hemolytic Anemia, CD59-Mediated (CD59)
No disease-causing mutations detected
Hereditary Fructose Intolerance (ALDOB)
No disease-causing mutations detected
Hereditary Hemochromatosis (HJV)
No disease-causing mutations detected
Hereditary Hemochromatosis Type 1 (HFE)
No disease-causing mutations detected
Hereditary Hemochromatosis Type 2, HAMP-Related (HAMP)
No disease-causing mutations detected
Hereditary Spastic Paraparesis 49 (TECPR2)
No disease-causing mutations detected
Hermansky-Pudlak Syndrome Type 4 (HPS4)
No disease-causing mutations detected
Hermansky-Pudlak Syndrome Type 5 (HPS5)
No disease-causing mutations detected
Hermansky-Pudlak Syndrome Type 6 (HPS6)
No disease-causing mutations detected
Hermansky-Pudlak Syndrome Type 8 (BLOC1S3)
No disease-causing mutations detected
Hermansky-Pudlak Syndrome Type 9 (BLOC1S6)
No disease-causing mutations detected
Hermansky-Pudlak Syndrome, Type 1 (HPS1)
No disease-causing mutations detected
Hermansky-Pudlak Syndrome, Type 3 (HPS3)
No disease-causing mutations detected
Holocarboxylase Synthetase Deficiency (HLCS)
No disease-causing mutations detected
hom*ocystinuria (CBS)
No disease-causing mutations detected
hom*ocystinuria due to Cobalamin G Deficiency (MTR)
No disease-causing mutations detected
hom*ocystinuria due to MTHFR Deficiency (MTHFR)
No disease-causing mutations detected
hom*ocystinuria, Cobalamin E Type (MTRR)
No disease-causing mutations detected
HPRT1-Related Disorders, X-Linked (HPRT1)
No disease-causing mutations detected
Hydrolethalus Syndrome (HYLS1)
No disease-causing mutations detected
Hyper-IgM Immunodeficiency, CD40-Related (CD40)
No disease-causing mutations detected
Hyper-IgM Immunodeficiency, X-Linked (CD40LG)
No disease-causing mutations detected
Hyperornithinemia-Hyperammonemia-hom*ocitrullinuria Syndrome (SLC25A15)
No disease-causing mutations detected
Hyperphosphatemic Familial Tumoral Calcinosis, GALNT3-Related (GALNT3)
No disease-causing mutations detected
Hypohidrotic Ectodermal Dysplasia, X-Linked (EDA)
No disease-causing mutations detected
Hypomyelinating Leukodystrophy-12 (VPS11)
No disease-causing mutations detected
Hypophosphatasia, Autosomal Recessive (ALPL)
No disease-causing mutations detected
Ichthyosis Prematurity Syndrome (SLC27A4)
No disease-causing mutations detected
IGHMBP2-Related Disorders (IGHMBP2)
No disease-causing mutations detected
IKBKB-Related Disorders (IKBKB)
No disease-causing mutations detected
Imerslund-Gr Sbeck Syndrome (AMN)
No disease-causing mutations detected
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 (DNMT3B)
No disease-causing mutations detected
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 (ZBTB24)
No disease-causing mutations detected
Inclusion Body Myopathy 2 (GNE)
No disease-causing mutations detected
Isolated Ectopia Lentis (ADAMTSL4)
No disease-causing mutations detected
Isovaleric Acidemia (IVD)
No disease-causing mutations detected
ITGB3-Related Disorders (ITGB3)
No disease-causing mutations detected
Johanson-Blizzard Syndrome (UBR1)
No disease-causing mutations detected
Joubert Syndrome 2 (TMEM216)
No disease-causing mutations detected
Joubert Syndrome 7 also known as Meckel Syndrome 5 (RPGRIP1L)
No disease-causing mutations detected
Junctional Epidermolysis Bullosa (LAMA3)
No disease-causing mutations detected
Junctional Epidermolysis Bullosa (LAMB3)
No disease-causing mutations detected
Junctional Epidermolysis Bullosa (LAMC2)
No disease-causing mutations detected
Junctional Epidermolysis Bullosa with Pyloric Atresia, ITGA6-Related (ITGA6)
No disease-causing mutations detected
Juvenile Retinoschisis, X-Linked (RS1)
No disease-causing mutations detected
Krabbe Disease (GALC)
No disease-causing mutations detected
L1 Syndrome, X-Linked (L1CAM)
No disease-causing mutations detected
Leber Congenital Amaurosis (AIPL1)
No disease-causing mutations detected
Leber Congenital Amaurosis 10 and Other CEP290-Related Ciliopathies (CEP290)
No disease-causing mutations detected
Leber Congenital Amaurosis 13 (RDH12)
No disease-causing mutations detected
Leber Congenital Amaurosis 2 also known as Retinitis Pigmentosa 20 (RPE65)
No disease-causing mutations detected
Leber Congenital Amaurosis 5 (LCA5)
No disease-causing mutations detected
Leber Congenital Amaurosis 8 also known as Retinitis Pigmentosa 12 (CRB1)
No disease-causing mutations detected
Leigh Syndrome, French-Canadian Type (LRPPRC)
No disease-causing mutations detected
Lethal Congenital Contracture Syndrome 1 (GLE1)
No disease-causing mutations detected
Leukoencephalopathy with Vanishing White Matter, EIF2B1-Related (EIF2B1)
No disease-causing mutations detected
Leukoencephalopathy with Vanishing White Matter, EIF2B2-Related (EIF2B2)
No disease-causing mutations detected
Leukoencephalopathy with Vanishing White Matter, EIF2B3-Related (EIF2B3)
No disease-causing mutations detected
Leukoencephalopathy with Vanishing White Matter, EIF2B4-Related (EIF2B4)
No disease-causing mutations detected
LIG4 Syndrome (LIG4)
No disease-causing mutations detected
Limb-Girdle Muscular Dystrophy Type 2A also known as Calpainopathy (CAPN3)
No disease-causing mutations detected
Limb-Girdle Muscular Dystrophy Type 2B also known as Dysferlinopathy (DYSF)
No disease-causing mutations detected
Limb-Girdle Muscular Dystrophy Type 2C also known as Gamma-Sarcoglycanopathy (SGCG)
No disease-causing mutations detected
Limb-Girdle Muscular Dystrophy Type 2D also known as Alpha-Sarcoglycanopathy (SGCA)
No disease-causing mutations detected
Limb-Girdle Muscular Dystrophy Type 2E also known as Beta-Sarcoglycanopathy (SGCB)
No disease-causing mutations detected
Limb-Girdle Muscular Dystrophy Type 2F also known as Delta-Sarcoglycanopathy (SGCD)
No disease-causing mutations detected
Limb-Girdle Muscular Dystrophy Type 2I (FKRP)
No disease-causing mutations detected
Lipoid Adrenal Hyperplasia (STAR)
No disease-causing mutations detected
Lipoprotein Lipase Deficiency (LPL)
No disease-causing mutations detected
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (HADHA)
No disease-causing mutations detected
LRAT-Related Disorders (LRAT)
No disease-causing mutations detected
Lysinuric Protein Intolerance (SLC7A7)
No disease-causing mutations detected
Lysosomal Acid Lipase Deficiency including Wolman Disease and Cholesteryl Ester Storage Disease (LIPA)
No disease-causing mutations detected
Major Histocompatibility Complex Class II Deficiency also known as Bare Lymphocyte Syndrome Type II (CIITA)
No disease-causing mutations detected
Malonyl-CoA Decarboxylase Deficiency (MLYCD)
No disease-causing mutations detected
Maple Syrup Urine Disease Type 1A (BCKDHA)
No disease-causing mutations detected
Maple Syrup Urine Disease Type 1B (BCKDHB)
No disease-causing mutations detected
Maple Syrup Urine Disease Type 2 (DBT)
No disease-causing mutations detected
Maple Syrup Urine Disease Type 3 also known as Dihyrolipoamide Dehydrogenase Deficiency (DLD)
No disease-causing mutations detected
MECP2-Related Disorders, X-Linked (MECP2)
No disease-causing mutations detected
Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)
No disease-causing mutations detected
Medium/Short-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (HADH)
No disease-causing mutations detected
MEDNIK Syndrome (AP1S1)
No disease-causing mutations detected
Megalencephalic Leukoencephalopathy With Subcortical Cysts Type 1 (MLC1)
No disease-causing mutations detected
Menkes Disease and Other ATP7A-Related Disorders, X-Linked (ATP7A)
No disease-causing mutations detected
Merosin-Deficient Muscular Dystrophy (LAMA2)
No disease-causing mutations detected
Metabolic Crises with Rhabdomyolysis, Cardiac Arrhythmias and Neurodegeneration (TANGO2)
No disease-causing mutations detected
Metachromatic Leukodystrophy (ARSA)
No disease-causing mutations detected
Methylmalonic Acidemia (MMAA)
No disease-causing mutations detected
Methylmalonic Acidemia (MMAB)
No disease-causing mutations detected
Methylmalonic Acidemia (MUT)
No disease-causing mutations detected
Methylmalonic Acidemia, MCEE-Related (MCEE)
No disease-causing mutations detected
Methylmalonic Aciduria and hom*ocystinuria, Cobalamin C Type (MMACHC)
No disease-causing mutations detected
Methylmalonic Aciduria and hom*ocystinuria, Cobalamin D Type (MMADHC)
No disease-causing mutations detected
Microcephalic Osteodysplastic Primordial Dwarfism Type II (PCNT)
No disease-causing mutations detected
Microphthalmia and Anophthalmia (VSX2)
No disease-causing mutations detected
Mitochondrial Complex I Deficiency (ACAD9)
No disease-causing mutations detected
Mitochondrial Complex I Deficiency 1 (NDUFS4)
No disease-causing mutations detected
Mitochondrial Complex I Deficiency 10 (NDUFAF2)
No disease-causing mutations detected
Mitochondrial Complex I Deficiency 12 (PET100)
No disease-causing mutations detected
Mitochondrial Complex I Deficiency 16 (NDUFAF5)
No disease-causing mutations detected
Mitochondrial Complex I Deficiency 19 (FOXRED1)
No disease-causing mutations detected
Mitochondrial Complex I Deficiency 3 (NDUFS7)
No disease-causing mutations detected
Mitochondrial Complex I Deficiency 4 (NDUFV1)
No disease-causing mutations detected
Mitochondrial Complex I Deficiency 6 (COX15)
No disease-causing mutations detected
Mitochondrial Complex I Deficiency, NDUFS6-Related (NDUFS6)
No disease-causing mutations detected
Mitochondrial DNA Depletion Syndrome 6 also known as Navajo Neurohepatopathy (MPV17)
No disease-causing mutations detected
Mitochondrial DNA Depletion Syndrome-2 (TK2)
No disease-causing mutations detected
Mitochondrial Myopathy and Sideroblastic Anemia 1 (PUS1)
No disease-causing mutations detected
Mitochondrial Neurogastrointestinal Encephalopathy Disease (TYMP)
No disease-causing mutations detected
Mitochondrial Trifunctional Protein Deficiency, HADHB-Related (HADHB)
No disease-causing mutations detected
MKKS-Related Disorders (MKKS)
No disease-causing mutations detected
MKS1-Related Disorders, including Bardet-Biedl Syndrome 13, Joubert Syndrome 28, and Meckel Syndrome 1 (MKS1)
No disease-causing mutations detected
Molybdenum Cofactor Deficiency, MOCS1-Related (MOCS1)
No disease-causing mutations detected
Molybdenum Cofactor Deficiency, MOCS2A-Related (MOCS2A)
No disease-causing mutations detected
Molybdenum Cofactor Deficiency, MOCS2B-Related (MOCS2B)
No disease-causing mutations detected
Mucolipidosis II and IIIA (GNPTAB)
No disease-causing mutations detected
Mucolipidosis III Gamma (GNPTG)
No disease-causing mutations detected
Mucolipidosis Type IV (MCOLN1)
No disease-causing mutations detected
Mucopolysaccharidosis Type I also known as Hurler Syndrome (IDUA)
No disease-causing mutations detected
Mucopolysaccharidosis Type II also known as Hunter Syndrome, X-Linked (IDS)
No disease-causing mutations detected
Mucopolysaccharidosis Type IIIA also known as Sanfilippo A Syndrome (SGSH)
No disease-causing mutations detected
Mucopolysaccharidosis Type IIIB also known as Sanfilippo B Syndrome (NAGLU)
No disease-causing mutations detected
Mucopolysaccharidosis Type IIIC also known as Sanfilippo C Syndrome (HGSNAT)
No disease-causing mutations detected
Mucopolysaccharidosis Type IIID (GNS)
No disease-causing mutations detected
Mucopolysaccharidosis Type IVA (GALNS)
No disease-causing mutations detected
Mucopolysaccharidosis Type IVb also known as GM1 Gangliosidosis (GLB1)
No disease-causing mutations detected
Mucopolysaccharidosis Type VI (ARSB)
No disease-causing mutations detected
Mucopolysaccharidosis Type VII (GUSB)
No disease-causing mutations detected
Mucopolysaccharidosistype IX (HYAL1)
No disease-causing mutations detected
Mulibrey Nanism (TRIM37)
No disease-causing mutations detected
Multiple Pterygium Syndrome (CHRNG)
No disease-causing mutations detected
Multiple Sulphatase Deficiency (SUMF1)
No disease-causing mutations detected
Muscle-Eye-Brain Disease (POMGNT1)
No disease-causing mutations detected
Muscular Dystrophy-Dystroglycanopathy, LARGE1-Related (LARGE1)
No disease-causing mutations detected
Muscular Dystrophy-Dystroglycanopathy, POMT1-Related (POMT1)
No disease-causing mutations detected
Muscular Dystrophy-Dystroglycanopathy, POMT2-Related (POMT2)
No disease-causing mutations detected
Muscular Dystrophy-Dystroglycanopathy, RXYLT1-Related (RXYLT1)
No disease-causing mutations detected
MUSK-Related Disorders (MUSK)
No disease-causing mutations detected
MVK-Related Disorders (MVK)
No disease-causing mutations detected
Myotonia Congenita (CLCN1)
No disease-causing mutations detected
Myotubular Myopathy, X-Linked (MTM1)
No disease-causing mutations detected
N-Acetylglutamate Synthase Deficiency (NAGS)
No disease-causing mutations detected
Nemaline Myopathy 2 (NEB)
No disease-causing mutations detected
Nephrogenic Diabetes Insipidus, Type II (AQP2)
No disease-causing mutations detected
Nephronophthisis, INVS-Related (INVS)
No disease-causing mutations detected
Nephronophthisis, NPHP1-Related (NPHP1)
No disease-causing mutations detected
Nephrotic Syndrome, NPHS1-Related also known as Congenital Finnish Nephrosis (NPHS1)
No disease-causing mutations detected
Nephrotic Syndrome, NPHS2-Related also known as Steroid-Resistant Nephrotic Syndrome (NPHS2)
No disease-causing mutations detected
Neuronal Ceroid Lipofuscinosis Type 10 (CTSD)
No disease-causing mutations detected
Neuronal Ceroid-Lipofuscinosis, CLN3-Related (CLN3)
No disease-causing mutations detected
Neuronal Ceroid-Lipofuscinosis, CLN5-Related (CLN5)
No disease-causing mutations detected
Neuronal Ceroid-Lipofuscinosis, CLN6-Related (CLN6)
No disease-causing mutations detected
Neuronal Ceroid-Lipofuscinosis, CLN8-Related also known as Northern Epilepsy (CLN8)
No disease-causing mutations detected
Neuronal Ceroid-Lipofuscinosis, MFSD8-Related (MFSD8)
No disease-causing mutations detected
Neuronal Ceroid-Lipofuscinosis, PPT1-Related (PPT1)
No disease-causing mutations detected
Neuronal Ceroid-Lipofuscinosis, TPP1-Related (TPP1)
No disease-causing mutations detected
Niemann-Pick Disease Type A/B (SMPD1)
No disease-causing mutations detected
Niemann-Pick Disease Type C, NPC1-Related (NPC1)
No disease-causing mutations detected
Niemann-Pick Disease Type C, NPC2-Related (NPC2)
No disease-causing mutations detected
Nijmegen Breakage Syndrome (NBN)
No disease-causing mutations detected
Nonsyndromic Deafness, MYO15A-Related (MYO15A)
No disease-causing mutations detected
Nonsyndromic Deafness, OTOA-Related (OTOA)
No disease-causing mutations detected
Nonsyndromic Deafness, OTOF-Related (OTOF)
No disease-causing mutations detected
Nonsyndromic Deafness, SYNE4-Related (SYNE4)
No disease-causing mutations detected
Nonsyndromic Deafness, TMC1-Related (TMC1)
No disease-causing mutations detected
Nonsyndromic Deafness, TMPRSS3-Related (TMPRSS3)
No disease-causing mutations detected
Nonsyndromic Intellectual Disability, CC2D1A-Related (CC2D1A)
No disease-causing mutations detected
NSMCE3 Deficiency (NSMCE3)
No disease-causing mutations detected
OCRL-Related Disorders, X-Linked (OCRL)
No disease-causing mutations detected
Oculocutaneous Albinism Type 2 (OCA2)
No disease-causing mutations detected
Oculocutaneous Albinism Type 3 (TYRP1)
No disease-causing mutations detected
Oculocutaneous Albinism Type 4 (SLC45A2)
No disease-causing mutations detected
Oculocutaneous Albinism Types 1A and 1B (TYR)
No disease-causing mutations detected
Odonto-Onycho-Dermal Dysplasia also known as Schopf-Schulz-Passarge Syndrome (WNT10A)
No disease-causing mutations detected
Omenn Syndrome and Severe Combined Immunodeficiency, Athabaskan-Type (DCLRE1C)
No disease-causing mutations detected
Omenn Syndrome, RAG2-Related (RAG2)
No disease-causing mutations detected
Opitz GBBB Syndrome, MID1-Related, X-Linked (MID1)
No disease-causing mutations detected
Ornithine Aminotransferase Deficiency (OAT)
No disease-causing mutations detected
Ornithine Transcarbamylase Deficiency, X-Linked (OTC)
No disease-causing mutations detected
Osteochondrodysplasias, Sulfate Transporter-Related (SLC26A2)
No disease-causing mutations detected
Osteogenesis Imperfecta, BMP1-Related (BMP1)
No disease-causing mutations detected
Osteogenesis Imperfecta, CRTAP-Related (CRTAP)
No disease-causing mutations detected
Osteogenesis Imperfecta, P3H1-Related (P3H1)
No disease-causing mutations detected
Osteopetrosis Type 1 (TCIRG1)
No disease-causing mutations detected
OSTM1 Deficiency Associated Osteopetrosis (OSTM1)
No disease-causing mutations detected
Pantothenate Kinase-Associated Neurodegeneration (PANK2)
No disease-causing mutations detected
Parkinson Disease 15 (FBXO7)
No disease-causing mutations detected
Pendred Syndrome (SLC26A4)
No disease-causing mutations detected
Peroxisome Biogenesis Disorder, Type 3 (PEX12)
No disease-causing mutations detected
PEX5-Related Disorders (PEX5)
No disease-causing mutations detected
PGM3-Gongenital Disorder of Glycosylation (PGM3)
No disease-causing mutations detected
Phenylalanine Hydroxylase Deficiency also known as Phenylketonuria (PAH)
No disease-causing mutations detected
PIGN-Congenital Disorder of Glycosylation (PIGN)
No disease-causing mutations detected
PJVK-Related Disorders (DFNB59)
No disease-causing mutations detected
PLA2G6-Related Disorders (PLA2G6)
No disease-causing mutations detected
PLEKHG5-Related Disorders (PLEKHG5)
No disease-causing mutations detected
PLP1-Related Disorders, X-Linked (PLP1)
No disease-causing mutations detected
POLG-Related Disorders (POLG)
No disease-causing mutations detected
Polycystic Kidney Disease, Autosomal Recessive (PKHD1)
No disease-causing mutations detected
Polyglandular Autoimmune Syndrome Type 1 (AIRE)
No disease-causing mutations detected
Polymicrogyria (ADGRG1)
No disease-causing mutations detected
Pompe Disease also known as Glycogen Storage Disease Type II (GAA)
No disease-causing mutations detected
Pontocerebellar Hypoplasia Type 1A (VRK1)
No disease-causing mutations detected
Pontocerebellar Hypoplasia Type 1B (EXOSC3)
No disease-causing mutations detected
Pontocerebellar Hypoplasia Type 6 (RARS2)
No disease-causing mutations detected
Pontocerebellar Hypoplasia, TSEN54-Related (TSEN54)
No disease-causing mutations detected
Postnatal Progressive Microcephaly also known as Infantile Cerebral and Cerebellar Atrophy (MED17)
No disease-causing mutations detected
Primary Carnitine Deficiency (SLC22A5)
No disease-causing mutations detected
Primary Ciliary Dyskinesia, CCDC103-Related (CCDC103)
No disease-causing mutations detected
Primary Ciliary Dyskinesia, CCDC39-Related (CCDC39)
No disease-causing mutations detected
Primary Ciliary Dyskinesia, DNAH11-Related (DNAH11)
No disease-causing mutations detected
Primary Ciliary Dyskinesia, DNAH5-Related (DNAH5)
No disease-causing mutations detected
Primary Ciliary Dyskinesia, DNAI1-Related (DNAI1)
No disease-causing mutations detected
Primary Ciliary Dyskinesia, DNAI2-Related (DNAI2)
No disease-causing mutations detected
Primary Hyperoxaluria Type 1 (AGXT)
No disease-causing mutations detected
Primary Hyperoxaluria Type 2 (GRHPR)
No disease-causing mutations detected
Primary Hyperoxaluria, Type 3 (HOGA1)
No disease-causing mutations detected
Primary Microcephaly, MCPH1-Related (MCPH1)
No disease-causing mutations detected
Progressive Cerebello-Cerebral Atrophy (SEPSECS)
No disease-causing mutations detected
Progressive Early-Onset Encepahlopathy with Brain Atrophy and Thin Corpus Callosum (TBCD)
No disease-causing mutations detected
Progressive Familial Intrahepatic Cholestasis 3 (ABCB4)
No disease-causing mutations detected
Progressive Familial Intrahepatic Cholestasis Type 2 (ABCB11)
No disease-causing mutations detected
Progressive Pseudorheumatoid Dysplasia (WISP3)
No disease-causing mutations detected
Prolidase Deficiency (PEPD)
No disease-causing mutations detected
Propionic Acidemia, PCCA-Related (PCCA)
No disease-causing mutations detected
Propionic Acidemia, PCCB-Related (PCCB)
No disease-causing mutations detected
Protein-Losing Enteropathy (DGAT1)
No disease-causing mutations detected
Prothrombin-Related Thrombophilia (F2)
No disease-causing mutations detected
Pycnodysostosis (CTSK)
No disease-causing mutations detected
Pyridoxal 5'-Phosphate-Dependent Epilepsy (PNPO)
No disease-causing mutations detected
Pyridoxine-Dependent Epilepsy, ALDH7A1-Related (ALDH7A1)
No disease-causing mutations detected
Pyruvate Carboxylase Deficiency (PC)
No disease-causing mutations detected
Pyruvate Dehydrogenase E1-Alpha Deficiency, X-Linked (PDHA1)
No disease-causing mutations detected
Pyruvate Dehydrogenase E1-Beta Deficiency (PDHB)
No disease-causing mutations detected
Refsum Disease (PHYH)
No disease-causing mutations detected
Renal Tubular Acidosis and Deafness (ATP6V1B1)
No disease-causing mutations detected
Retinitis Pigmentosa 2, X-Linked (RP2)
No disease-causing mutations detected
Retinitis Pigmentosa 25 (EYS)
No disease-causing mutations detected
Retinitis Pigmentosa 26 (CERKL)
No disease-causing mutations detected
Retinitis Pigmentosa 28 (FAM161A)
No disease-causing mutations detected
Retinitis Pigmentosa 36 (PRCD)
No disease-causing mutations detected
Retinitis Pigmentosa 59 (DHDDS)
No disease-causing mutations detected
Retinitis Pigmentosa 62 (MAK)
No disease-causing mutations detected
Rhizomelic Chondrodysplasia Punctata Type 1 (PEX7)
No disease-causing mutations detected
Rhizomelic Chondrodysplasia Punctata Type 2 (GNPAT)
No disease-causing mutations detected
Rhizomelic Chondrodysplasia Punctata Type 3 (AGPS)
No disease-causing mutations detected
RLBP1-Related Disorders (RLBP1)
No disease-causing mutations detected
Roberts Syndrome (ESCO2)
No disease-causing mutations detected
RYR1-Related Disorders (RYR1)
No disease-causing mutations detected
Salla Disease (SLC17A5)
No disease-causing mutations detected
SAMD9-Related Disorders (SAMD9)
No disease-causing mutations detected
Sandhoff Disease (HEXB)
No disease-causing mutations detected
Schimke Immunoosseous Dysplasia (SMARCAL1)
No disease-causing mutations detected
Sepiapterin Reductase Deficiency (SPR)
No disease-causing mutations detected
Severe Combined Immunodeficiency due to CD3-Delta Deficiency (CD3D)
No disease-causing mutations detected
Severe Combined Immunodeficiency due to CD3-Epsilon Deficiency (CD3E)
No disease-causing mutations detected
Severe Combined Immunodeficiency due to CD45 Deficiency (PTPRC)
No disease-causing mutations detected
Severe Combined Immunodeficiency due to JAK3 Deficiency (JAK3)
No disease-causing mutations detected
Severe Combined Immunodeficiency due to RAG1 Deficiency (RAG1)
No disease-causing mutations detected
Severe Combined Immunodeficiency, X-Linked (IL2RG)
No disease-causing mutations detected
Severe Congenital Neutropenia due to G6PC3 Deficiency (G6PC3)
No disease-causing mutations detected
Sialidosis (NEU1)
No disease-causing mutations detected
Sjogren-Larsson Syndrome (ALDH3A2)
No disease-causing mutations detected
Smith-Lemli-Opitz Syndrome (DHCR7)
No disease-causing mutations detected
Spastic Ataxia of Charlevoix-Saguenay, Autosomal Recessive (SACS)
No disease-causing mutations detected
Spastic Paraplegia, Type 15 (ZFYVE26)
No disease-causing mutations detected
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SLC1A4)
No disease-causing mutations detected
SPG11-Related Disorders (SPG11)
No disease-causing mutations detected
Spinal Muscular Atrophy (SMN1)
No disease-causing mutations detected (2 copies detected)
Spinocerebellar Ataxia, ANO10-Related (ANO10)
No disease-causing mutations detected
Spondylocostal Dysostosis, DLL3-Related (DLL3)
No disease-causing mutations detected
Spondylothoracic Dysostosis (MESP2)
No disease-causing mutations detected
Steel Syndrome (COL27A1)
No disease-causing mutations detected
Steroid 5-Alpha-Reductase Deficiency (SRD5A2)
No disease-causing mutations detected
Stuve-Wiedemann Syndrome (LIFR)
No disease-causing mutations detected
Sulfite Oxidase Deficiency (SUOX)
No disease-causing mutations detected
SURF1-Related Disorders (SURF1)
No disease-causing mutations detected
Tay-Sachs Disease also known as Hexosaminidase A Deficiency (HEXA)
No disease-causing mutations detected
TCBE-Related Disorders (TCBE)
No disease-causing mutations detected
TGM1-Related Autosomal Recessive Congenital Ichthyosis (TGM1)
No disease-causing mutations detected
Thiamine-Responsive Megaloblastic Anemia (SLC19A2)
No disease-causing mutations detected
Thyroid Dyshormonogenesis, SLC5A5-Related (SLC5A5)
No disease-causing mutations detected
Thyroid Dyshormonogenesis, TG-Related (TG)
No disease-causing mutations detected
TMEM67-Related Disorders (TMEM67)
No disease-causing mutations detected
Transcobalamin II Deficiency (TCN2)
No disease-causing mutations detected
TREX1-Related Disorders (TREX1)
No disease-causing mutations detected
Trichohepatoenteric Syndrome, SKIV2L-Related (SKIV2L)
No disease-causing mutations detected
Trichohepatoenteric Syndrome, TTC37-Related (TTC37)
No disease-causing mutations detected
TRIM32-Related Disorders (TRIM32)
No disease-causing mutations detected
Trimethylaminuria (FMO3)
No disease-causing mutations detected
Triple A Syndrome (AAAS)
No disease-causing mutations detected
TSHR-Related Disorders (TSHR)
No disease-causing mutations detected
TULP1-Related Disorders (TULP1)
No disease-causing mutations detected
Tyrosine Hydroxylase Deficiency (TH)
No disease-causing mutations detected
Tyrosinemia Type 1 (FAH)
No disease-causing mutations detected
Tyrosinemia Type III (HPD)
No disease-causing mutations detected
Tyrosinemia, Type II (TAT)
No disease-causing mutations detected
Usher Syndrome Type IB (MYO7A)
No disease-causing mutations detected
Usher Syndrome Type IC (USH1C)
No disease-causing mutations detected
Usher Syndrome Type ID (CDH23)
No disease-causing mutations detected
Usher Syndrome Type IF (PCDH15)
No disease-causing mutations detected
Usher Syndrome Type IIA (USH2A)
No disease-causing mutations detected
Usher Syndrome Type IIIA (CLRN1)
No disease-causing mutations detected
Vanishing White Matter Disease (EIF2B5)
No disease-causing mutations detected
Very Long Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)
No disease-causing mutations detected
Vici Syndrome (EPG5)
No disease-causing mutations detected
Vitamin D-Dependent Rickets Type 1A (CYP27B1)
No disease-causing mutations detected
Vitamin D-Dependent Rickets Type 2A (VDR)
No disease-causing mutations detected
VPS53-Related Disorders (VPS53)
No disease-causing mutations detected
Warsaw Syndrome (DDX11)
No disease-causing mutations detected
WAS-Related Disorders, X-Linked (WAS)
No disease-causing mutations detected
Werner Syndrome (WRN)
No disease-causing mutations detected
Wilson Disease (ATP7B)
No disease-causing mutations detected
Wolcott-Rallison Syndrome (EIF2AK3)
No disease-causing mutations detected
Woodhouse-Sakati Syndrome (DCAF17)
No disease-causing mutations detected
Xeroderma Pigmentosum, Group A (XPA)
No disease-causing mutations detected
Xeroderma Pigmentosum, Group C (XPC)
No disease-causing mutations detected
Xeroderma Pigmentosum, Variant Type (POLH)
No disease-causing mutations detected
Zellweger Spectrum Disorder, PEX13-Related (PEX13)
No disease-causing mutations detected
Zellweger Spectrum Disorder, PEX16-Related (PEX16)
No disease-causing mutations detected
Zellweger Spectrum Disorder, PEX2-Related (PEX2)
No disease-causing mutations detected
Zellweger Spectrum Disorder, PEX26-Related (PEX26)
No disease-causing mutations detected
Zellweger Spectrum Disorder, PEX6-Related (PEX6)
No disease-causing mutations detected
Zellweger Syndrome Spectrum (PEX1)
No disease-causing mutations detected
Zellweger Syndrome Spectrum, PEX10- Related (PEX10)
No disease-causing mutations detected
