21-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP21A2)
No disease-causing mutations detected
3-Hydroxy-3-Methylglutaryl-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
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
Adrenoleukodystrophy, X-Linked (ABCD1)
No disease-causing mutations detected
Aicardi-Goutieres Syndrome (SAMHD1)
No disease-causing mutations detected
Aldosterone Synthase Deficiency also known as Corticosterone Methyloxidase Deficiency (CYP11B2)
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-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
Arginase Deficiency also known as Argininemia (ARG1)
No disease-causing mutations detected
Argininosuccinic Aciduria (ASL)
No disease-causing mutations detected
Aromatase Deficiency (CYP19A1)
No disease-causing mutations detected
Arthrogryposis, Mental Retardation, and Seizures (SLC35A3)
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
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
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-Thalassemia, Sickle Cell Disease, and Beta-Globin Disorders (HBB)
No disease-causing mutations detected; normal hemoglobin analysis
Biotinidase Deficiency (BTD)
No disease-causing mutations detected
Bloom Syndrome (BLM)
No disease-causing mutations detected
Canavan Disease (ASPA)
No disease-causing mutations detected
Carbamoylphosphate Synthetase I Deficiency (CPS1)
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
Carpenter Syndrome (RAB23)
No disease-causing mutations detected
Cartilage-Hair Hypoplasia (RMRP)
No disease-causing mutations detected
Cerebral Creatine Deficiency Syndrome 1, X-Linked (SLC6A8)
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
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
Citrin Deficiency (SLC25A13)
No disease-causing mutations detected
Citrullinemia Type 1 (ASS1)
No disease-causing mutations detected
Cockayne Syndrome Type A (ERCC8)
No disease-causing mutations detected
Cockayne Syndrome Type B (ERCC6)
No disease-causing mutations detected
Cohen Syndrome (VPS13B)
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 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 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 Ic (ALG6)
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 Neutropenia (HAX1)
No disease-causing mutations detected
Congenital Neutropenia, VPS45-Related (VPS45)
No disease-causing mutations detected
Corneal Dystrophy and Perceptive Deafness (SLC4A11)
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
D-Bifunctional Protein Deficiency (HSD17B4)
No disease-causing mutations detected
Deafness, Autosomal Recessive 77 (LOXHD1)
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, 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
Ethylmalonic Encephalopathy (ETHE1)
No disease-causing mutations detected
F5-Related Disorders (F5)
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 XI Deficiency (F11)
No disease-causing mutations detected
Familial Dysautonomia (ELP1)
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 C (FANCC)
No disease-causing mutations detected
Fanconi Anemia, Type G (FANCG)
No disease-causing mutations detected
FKTN-Related Disorders including Walker-Warburg Syndrome (FKTN)
No disease-causing mutations detected
Fragile X Syndrome, X-Linked (FMR1)
No disease-causing mutations detected; CGG repeat number within normal range
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
Gaucher Disease (GBA)
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 IIa (ETFA)
No disease-causing mutations detected
Glutaric Acidemia, Type IIc (ETFDH)
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 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
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
Hemochromatosis, Type 3 (TFR2)
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 Spastic Paraparesis 49 (TECPR2)
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
Homocystinuria (CBS)
No disease-causing mutations detected
Homocystinuria due to MTHFR Deficiency (MTHFR)
No disease-causing mutations detected
Homocystinuria, Cobalamin E Type (MTRR)
No disease-causing mutations detected
Hydrolethalus Syndrome (HYLS1)
No disease-causing mutations detected
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (SLC25A15)
No disease-causing mutations detected
Hypohidrotic Ectodermal Dysplasia, X-Linked (EDA)
No disease-causing mutations detected
Hypophosphatasia, Autosomal Recessive (ALPL)
No disease-causing mutations detected
Inclusion Body Myopathy 2 (GNE)
No disease-causing mutations detected
Isovaleric Acidemia (IVD)
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
Juvenile Retinoschisis, X-Linked (RS1)
No disease-causing mutations detected
Krabbe Disease (GALC)
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
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 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
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
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
Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)
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
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 Aciduria and Homocystinuria, Cobalamin C Type (MMACHC)
No disease-causing mutations detected
Methylmalonic Aciduria and Homocystinuria, Cobalamin D Type (MMADHC)
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 16 (NDUFAF5)
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 Myopathy and Sideroblastic Anemia 1 (PUS1)
No disease-causing mutations detected
Mitochondrial Neurogastrointestinal Encephalopathy Disease (TYMP)
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
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 IVb also known as GM1 Gangliosidosis (GLB1)
No disease-causing mutations detected
Mucopolysaccharidosis Type VI (ARSB)
No disease-causing mutations detected
Mucopolysaccharidosistype IX (HYAL1)
No disease-causing mutations detected
Multiple Sulphatase Deficiency (SUMF1)
No disease-causing mutations detected
Muscle-Eye-Brain Disease (POMGNT1)
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
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, 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
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
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
Osteopetrosis Type 1 (TCIRG1)
No disease-causing mutations detected
Pendred Syndrome (SLC26A4)
No disease-causing mutations detected
Peroxisome Biogenesis Disorder, Type 3 (PEX12)
No disease-causing mutations detected
Phenylalanine Hydroxylase Deficiency also known as Phenylketonuria (PAH)
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 6 (RARS2)
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, 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
Progressive Cerebello-Cerebral Atrophy (SEPSECS)
No disease-causing mutations detected
Progressive Familial Intrahepatic Cholestasis Type 2 (ABCB11)
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
Prothrombin-Related Thrombophilia (F2)
No disease-causing mutations detected
Pycnodysostosis (CTSK)
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
Renal Tubular Acidosis and Deafness (ATP6V1B1)
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 59 (DHDDS)
No disease-causing mutations detected
Rhizomelic Chondrodysplasia Punctata Type 1 (PEX7)
No disease-causing mutations detected
Rhizomelic Chondrodysplasia Punctata Type 3 (AGPS)
No disease-causing mutations detected
Roberts Syndrome (ESCO2)
No disease-causing mutations detected
Salla Disease (SLC17A5)
No disease-causing mutations detected
Sandhoff Disease (HEXB)
No disease-causing mutations detected
Schimke Immunoosseous Dysplasia (SMARCAL1)
No disease-causing mutations detected
Severe Combined Immunodeficiency, X-Linked (IL2RG)
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
Spinal Muscular Atrophy (SMN1)
No disease-causing mutations detected (2 copies detected)
Spondylothoracic Dysostosis (MESP2)
No disease-causing mutations detected
Steel Syndrome (COL27A1)
No disease-causing mutations detected
Stuve-Wiedemann Syndrome (LIFR)
No disease-causing mutations detected
Tay-Sachs Disease also known as Hexosaminidase A Deficiency (HEXA)
No disease-causing mutations detected
TGM1-Related Autosomal Recessive Congenital Ichthyosis (TGM1)
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 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
Wilson Disease (ATP7B)
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
Zellweger Spectrum Disorder, PEX2-Related (PEX2)
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