11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia
2-methylbutyrylglycinuria
21-hydroxylase Deficient Congenital Adrenal Hyperplasia
3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC1-Related)
3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC2-Related)
3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH)
6-pyruvoyl-tetrahydropterin Synthase Deficiency
ABCC8-related Hyperinsulinism
AMT-related Glycine Encephalopathy
ARSACS
ATP7A-related Disorders
Abetalipoproteinemia (MTTP)
Achalasia-addisonianism-alacrimia Syndrome
Achromatopsia
Achromatopsia 2
Acrodermatitis Enteropathica
Acute Infantile Liver Failure
Acyl-CoA Oxidase I Deficiency
Adams-Oliver Syndrome 4
Adenosine Deaminase Deficiency
Adrenocorticotropic Hormone Deficiency
Agammaglobulinemia (X-linked)
Agenesis Of The Corpus Callosum
Aicardi-Gouti?res Syndrome (SAMHD1-Related)
Aicardi-Goutieres Syndrome (RNASEH2C-related)
Aicardi-Goutieres Syndrome 1 (and Other TREX1-related Retinal Dystroph
Alkaptonuria
Alpha Thalassemia
Alpha-1 Antitrypsin Deficiency
Alpha-Thalassemia Mental Retardation Syndrome
Alpha-mannosidosis
Alstrom Syndrome
Andermann Syndrome
Angelman Syndrome
Anterior Segment Dysgenesis (CYP1B1-related) / Glaucoma (CYP1B1-relate
Antley-Bixler Syndrome (POR-related)
Argininemia
Argininosuccinic Aciduria
Aromatase Deficiency
Arthrogryposis, Mental Retardation, And Seizures (SLC35A3)
Asparagine Synthetase Deficiency
Aspartylglycosaminuria
Ataxia With Vitamin E Deficiency
Ataxia-Telangiectasia-Like Disorder (MRE11)
Ataxia-telangiectasia
Autosomal Recessive Osteopetrosis Type 1
Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Primary Microcephaly 8
BH4-deficient Hyperphenylalaninemia C
BH4-deficient Hyperphenylalaninemia D
Bardet-Biedl Syndrome (ARL6-related)
Bardet-Biedl Syndrome (BBS4-related)
Bardet-Biedl Syndrome (TRIM32-related)
Bardet-Biedl Syndrome, BBS1-related
Bardet-Biedl Syndrome, BBS10-related
Bardet-Biedl Syndrome, BBS12-related
Bardet-Biedl Syndrome, BBS2-related
Bare Lymphocyte Syndrome, Type II
Barth Syndrome
Bartter Syndrome, Type 3
Bartter Syndrome, Type 4A
Bernard-Soulier Syndrome, Type A1
Bernard-Soulier Syndrome, Type C
Beta-Ketothiolase Deficiency
Beta-Thalassemia
Beta-mannosidosis
Bilateral Frontoparietal Polymicrogyria
Biotinidase Deficiency
Bloom Syndrome
CD59-mediated Hemolytic Anemia
CLN3-related Neuronal Ceroid Lipofuscinosis
CLN5-related Neuronal Ceroid Lipofuscinosis
CLN6-related Neuronal Ceroid Lipofuscinosis
CLN8-related Neuronal Ceroid Lipofuscinosis
COL4A3-related Alport Syndrome
COL4A4-related Alport Syndrome
Calpainopathy
Canavan Disease
Carbamoylphosphate Synthetase I Deficiency
Carnitine Acylcarnitine Translocase Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Carnitine Palmitoyltransferase II Deficiency
Carpenter Syndrome
Cartilage-hair Hypoplasia
Catecholaminergic Polymorphic Ventricular Tachycardia
Central Hypothyroidism And Testicular Enlargement
Cerebral Creatine Deficiency Syndrome 1
Cerebral Creatine Deficiency Syndrome 2
Cerebral Creatine Deficiency Syndrome 3
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratode
Cerebrotendinous Xanthomatosis
Charcot-Marie-Tooth Disease, Type 4D
Charcot-Marie-Tooth Disease, Type 5 / Arts Syndrome
Charcot-Marie-Tooth Disease, X-Linked
Chediak-Higashi Syndrome
Chondrodysplasia Punctata (X-linked)
Choreoacanthocytosis
Choroideremia
Chronic Granulomatous Disease (CYBA-related)
Chronic Granulomatous Disease (CYBB-related)
Citrin Deficiency
Citrullinemia Type 1
Cobalamin C Disease
Cohen Syndrome
Combined Factor V And VIII Deficiency
Combined Malonic And Methylmalonic Aciduria
Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 3
Combined Pituitary Hormone Deficiency 1
Combined Pituitary Hormone Deficiency 3
Combined SAP Deficiency
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Congenital Adrenal Insufficiency (CYP11A1-related)
Congenital Amegakaryocytic Thrombocytopenia (MPL)
Congenital Bile Acid Synthesis Defect (AKR1D1-Related)
Congenital Bile Acid Synthesis Defect (HSD3B7-Related)
Congenital Disorder Of Deglycosylation
Congenital Disorder Of Glycosylation Type Ia
Congenital Disorder Of Glycosylation Type Ib
Congenital Disorder Of Glycosylation Type Ic
Congenital Disorder Of Glycosylation, Type Im
Congenital Dyserythropoietic Anemia Type 2
Congenital Dyserythropoietic Anemia, Type Ia
Congenital Finnish Nephrosis
Congenital Ichthyosis 4A And 4B
Congenital Insensitivity To Pain With Anhidrosis
Congenital Myasthenic Syndrome (CHAT-related)
Congenital Myasthenic Syndrome (CHRNE-Related)
Congenital Myasthenic Syndrome (DOK7-related)
Congenital Myasthenic Syndrome (RAPSN-Related)
Congenital Neutropenia (HAX1-Related)
Congenital Neutropenia (VPS45-Related)
Congenital Nongoitrous Hypothryoidism 1 / Nonautoimmune Hyperthyroidis
Congenital Nongoitrous Hypothryoidism 4
Congenital Secretory Chloride Diarrhea 1
Corneal Dystrophy And Perceptive Deafness
Corticosterone Methyloxidase Deficiency
Costeff Optic Atrophy Syndrome
Cystic Fibrosis
Cystinosis
Cystinuria (SLC3A1-related)
Cytochrome C Oxidase Deficiency / Leigh Syndrome (COX15-related)
D-bifunctional Protein Deficiency
Deafness, Autosomal Recessive 3
Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 7 / Deafness, Autosomal Dominant 36
Deafness, Autosomal Recessive 76
Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 8
Deafness, Autosomal Recessive 9 / Auditory Neuropathy
Delta-sarcoglycanopathy
Desbuquois Dysplasia 1
Desmosterolosis
Diaphanospondylodysostosis
Dihydrolipoamide Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency
Distal Renal Tubular Acidosis / Spherocytosis, Type 4
Dysferlinopathy
Dyskeratosis Congenita (X-linked)
Dystrophic Epidermolysis Bullosa
Dystrophinopathy (including Duchenne/Becker Muscular Dystrophy)
ERCC6-related Disorders
ERCC8-related Disorders
EVC-related Ellis-van Creveld Syndrome
EVC2-related Ellis-van Creveld Syndrome
Ehlers-Danlos Syndrome, Type VI
Ehlers-Danlos Syndrome, Type VIIC
Emery-Dreifuss Myopathy 1
Enhanced S-Cone Syndrome
Ethylmalonic Encephalopathy
FKRP-related Disorders
Fabry Disease
Factor IX Deficiency
Factor V Leiden Thrombophilia
Factor VII Deficiency
Factor XI Deficiency
Familial Autosomal Recessive Hypercholesterolemia
Familial Dysautonomia
Familial Hypercholesterolemia (LDLR-related)
Familial Hyperinsulinemic Hypoglycemia 4 / 3-Hydroxyacyl-CoA Dehydroge
Familial Hyperphosphatemic Tumoral Calcinosis
Familial Mediterranean Fever
Fanconi Anemia Complementation Group A
Fanconi Anemia Type C
Fanconi Anemia, Group G
Fanconi-Bickel Syndrome
Fragile X Syndrome
Fructose-1,6-Bisphosphatase Deficiency
Fucosidosis
Fundus Albipunctatus (RDH5-related)
GJB2-related DFNB1 Nonsyndromic Hearing Loss And Deafness
GLB1-related Disorders
GLDC-related Glycine Encephalopathy
GNPTAB-related Disorders
GRACILE Syndrome
Galactokinase Deficiency
Galactose Epimerase Deficiency
Galactosemia
Galactosialidosis
Gamma-sarcoglycanopathy
Gaucher Disease
Generalized Thyrotropin-Releasing Hormone Resistance
Geroderma Osteodysplasticum
Gitelman Syndrome
Glanzmann Thrombasthenia (ITGA2B-related)
Glanzmann Thrombasthenia (ITGB3-related)
Glucose-6-phosphate Dehydrogenase Deficiency
Glutaric Acidemia Type 1
Glutaric Acidemia, Type IIa
Glutaric Acidemia, Type IIb
Glutaric Acidemia, Type IIc
Glutathione Synthetase Deficiency
Glycine Encephalopathy
Glycogen Storage Disease Type II
Glycogen Storage Disease Type III
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type Ib
Glycogen Storage Disease Type V
Glycogen Storage Disease, Type 0
Glycogen Storage Disease, Type IV / Adult Polyglucosan Body Disease
Glycogen Storage Disease, Type IXb
Glycogen Storage Disease, Type VI
Glycogen Storage Disease, Type VII
Gray Platelet Syndrome
Growth Hormone Deficiency, Type IB
HBA1 Copy Number
HBA2 Copy Number
HFE-Associated Hereditary Hemochromatosis
HMG-CoA Lyase Deficiency
HMG-CoA Synthase 2 Deficiency
Hawkinsinuria / Tyrosinemia, Type III
Hb Beta Chain-related Hemoglobinopathy (including Beta Thalassemia And Sickle Cell Disease)
Hemochromatosis, Type 2A
Hemochromatosis, Type 3
Hereditary Fructose Intolerance
Hereditary Leiomyomatosis And Renal Cell Cancer / Fumarase Deficiency
Hereditary Spastic Paraparesis 49
Hereditary Thymine-uraciluria
Herlitz Junctional Epidermolysis Bullosa, LAMA3-related
Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
Hermansky-Pudlak Syndrome (HPS4-related)
Hermansky-Pudlak Syndrome (HPS6-related)
Hermansky-Pudlak Syndrome, Type 1
Hermansky-Pudlak Syndrome, Type 3
Hexosaminidase A Deficiency
Hexosaminidase A Deficiency (including Tay-Sachs Disease)
Holocarboxylase Synthetase Deficiency
Holocarboxylase Synthetase Deficiency
Homocystinuria Caused By Cystathionine Beta-synthase Deficiency
Homocystinuria, CblE Type
Homocystinuria-Megaloblastic Anemia, Cobalamin G Type
Hurler Syndrome
Hydrocephalus (X-linked)
Hydrolethalus Syndrome
Hyper-IgM Syndrome (X-linked)
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperoxaluria Type 1
Hyperoxaluria Type 2
Hyperparathyroidism/hypocalcemia/type I Hypocalciuric Hypercalcemia/ps
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis
Hypohidrotic Ectodermal Dysplasia 1
Hypomagnesemia 1
Hypomyelinating Leukodystrophy 3
Hypoparathyroidism-retardation-dysmorphic Syndrome
Hypophosphatasia, Autosomal Recessive
Hypophosphatemic Rickets With Hypercalciuria
Hypotrichosis 8 / Autosomal Recessive Woolly Hair 1
Immunodeficiency 18
Immunodeficiency 19
Inclusion Body Myopathy 2
Infantile Cerebral And Cerebellar Atrophy
Infantile Neuroaxonal Dystrophy 1 And Other PLA2G6-related Disorders
Intrahepatic Cholestasis
Isovaleric Acidemia
Joubert Syndrome (and Other NPHP1-related Ciliopathies)
Joubert Syndrome 2
Joubert Syndrome 7 / Meckel Syndrome 5 / COACH Syndrome
Junctional Epidermolysis Bullosa (COL17A1-related)
Junctional Epidermolysis Bullosa (ITGA6-related)
Junctional Epidermolysis Bullosa (ITGB4-related)
Junctional Epidermolysis Bullosa, LAMA3-related
Junctional Epidermolysis Bullosa, LAMB3-related
Junctional Epidermolysis Bullosa, LAMC2-related
KCNJ11-related Familial Hyperinsulinism
Karyotyping
Kel*K
Kel*k
Kohlschutter-Tonz Syndrome
Krabbe Disease
LAMA2-related Muscular Dystrophy
LRRC6
Laron Dwarfism
Leber Congenital Amaurosis (and Other AIPL1-related Ciliopathies)
Leber Congenital Amaurosis (and Other GUCY2D-related Ciliopathies)
Leber Congenital Amaurosis (and Other TULP1-related Retinopathies)
Leber Congenital Amaurosis 10 And Other CEP290-Related Ciliopathies
Leber Congenital Amaurosis 13
Leber Congenital Amaurosis 2 / Retinitis Pigmentosa 20
Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 8 / Retinitis Pigmentosa 12 / Pigmented Par
Leigh Syndrome
Leigh Syndrome (NDUFS7-related)
Leigh Syndrome (SURF1-related)
Leigh Syndrome, French-Canadian Type
Lethal Congenital Contracture Syndrome 1 / Lethal Arthrogryposis With
Lethal Congenital Contracture Syndrome 2
Lethal Congenital Contracture Syndrome 3
Leukoencephalopathy With Vanishing White Matter
Limb-girdle Muscular Dystrophy Type 2D
Limb-girdle Muscular Dystrophy Type 2E
Limb-girdle Muscular Dystrophy, Type 2L
Lipoid Congenital Adrenal Hyperplasia
Lipoprotein Lipase Deficiency
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Lowe Syndrome (X-linked)
Lysinuric Protein Intolerance
Lysosomal Acid Lipase Deficiency
MEDNIK Syndrome
MKS1-related Disorders
MTHFR Deficiency
MYO7A-related Disorders
Malonyl-CoA Decarboxylase Deficiency
Maple Syrup Urine Disease Type 1A
Maple Syrup Urine Disease Type 1B
Maple Syrup Urine Disease Type 3
Maple Syrup Urine Disease Type II
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Megalencephalic Leukoencephalopathy With Subcortical Cysts
Megaloblastic Anemia 1
Mental Retardation, Autosomal Recessive 3
Metachromatic Leukodystrophy
Methionine Adenosyltransferase I/III Deficiency
Methylmalonic Acidemia MMAA-related
Methylmalonic Acidemia MMAB-related
Methylmalonic Acidemia MUT-related
Methylmalonic Acidemia, CblA Type
Methylmalonic Acidemia, CblB Type
Methylmalonic Aciduria And Homocystinuria Type CbIC
Methylmalonic Aciduria And Homocystinuria, Cobalamin D Type
Methylmalonic Aciduria And Homocystinuria, Cobalamin F Type
Methylmalonyl-CoA Epimerase Deficiency
Microcephaly 9, Primary, AR / Seckel Syndrome 5 (CEP152-related)
Microphthalmia / Anophthalmia
Mitochondrial Complex I Deficiency (ACAD9-Related)
Mitochondrial Complex I Deficiency (NDUFA11-related)
Mitochondrial Complex I Deficiency (NDUFAF5-Related)
Mitochondrial Complex I Deficiency (NDUFS6-Related)
Mitochondrial Complex I Deficiency (NDUFV1-related)
Mitochondrial Complex I Deficiency / Leigh Syndrome (FOXRED1-related)
Mitochondrial Complex I Deficiency / Leigh Syndrome (NDUFAF2-related)
Mitochondrial Complex I Deficiency / Leigh Syndrome (NDUFS4-related)
Mitochondrial Complex IV Deficiency (COX20-related)
Mitochondrial Complex IV Deficiency (COX6B1-related)
Mitochondrial Complex IV Deficiency (APOPT1-related)
Mitochondrial Complex IV Deficiency (PET100-related)
Mitochondrial Complex IV Deficiency (SCO1-Related)
Mitochondrial Complex IV Deficiency / Leigh Syndrome (COX10-related)
Mitochondrial DNA Depletion Syndrome 2
Mitochondrial DNA Depletion Syndrome 3
Mitochondrial DNA Depletion Syndrome 4A And 4B And Other POLG-related
Mitochondrial DNA Depletion Syndrome 5
Mitochondrial DNA Depletion Syndrome 6 / Navajo Neurohepatopathy
Mitochondrial Myopathy And Sideroblastic Anemia 1
Mitochondrial Trifunctional Protein Deficiency (HADHB-Related)
Molybdenum Cofactor Deficiency A
Mucolipidosis II / IIIA
Mucolipidosis III Gamma
Mucolipidosis IV
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IIIC
Mucopolysaccharidosis Type IIID
Mucopolysaccharidosis Type IVa
Mucopolysaccharidosis Type VI
Mucopolysaccharidosis VII
Mucopolysaccharidosis?type IX
Mulibrey Nanism
Multiple Congenital Anomalies-hypotonia-seizures Syndrome 1
Multiple Pterygium Syndrome
Multiple Sulfatase Deficiency (SUMF1)
Muscle-eye-brain Disease
Myoneurogastrointestinal Encephalopathy
N-Acetylglutamate Synthase Deficiency
NEB-related Nemaline Myopathy
NOTCH1-related Disease
Nephrogenic Diabetes Insipidus (AVPR2-Related) / Nephrogenic Syndrome
Nephrogenic Diabetes Insipidus, Type II
Nephronophthisis 2
Nephrotic Syndrome, NPHS1-Related
Nephrotic Syndrome, NPHS2-Related
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neuronal Ceroid-Lipofuscinosis (MFSD8-Related)
Niemann-Pick Disease Type A
Niemann-Pick Disease Type B
Niemann-Pick Disease Type C
Niemann-Pick Disease Type C2
Niemann-Pick Disease, SMPD1-associated
Niemann-Pick Disease, Type C (NPC1-Related)
Nijmegen Breakage Syndrome
Non-Ketonic Hyperglycinemia, GLDC-Related
Northern Epilepsy
Oculocutaneous Albinism (SLC45A2-related)
Oculocutaneous Albinism (TYR-related)
Oculocutaneous Albinism (TYRP1-related)
Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome
Omenn Syndrome (RAG2-Related)
Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type
Omenn Syndrome And Other RAG1-related Disorders
Ornithine Aminotransferase Deficiency
Ornithine Transcarbamylase Deficiency
Osteogenesis Imperfecta, Type XI
Osteopetrosis 8
PCCA-related Propionic Acidemia
PCCB-related Propionic Acidemia
PEX1-related Zellweger Syndrome Spectrum
PLAA-related Neurodevelopmental Disorders
PPT1-related Neuronal Ceroid Lipofuscinosis
PROP1-related Combined Pituitary Hormone Deficiency
Papillon-Lefevre Syndrome
Pendred Syndrome
Peroxisome Biogenesis Disorder 7A And 7B
Peroxisome Biogenesis Disorder Type 3
Peroxisome Biogenesis Disorder Type 4
Peroxisome Biogenesis Disorder Type 5
Peroxisome Biogenesis Disorder Type 6
Phenylalanine Hydroxylase Deficiency
Polyglandular Autoimmune Syndrome Type 1
Pompe Disease
Pontocerebellar Hypoplasia, Type 1A
Pontocerebellar Hypoplasia, Type 1B
Pontocerebellar Hypoplasia, Type 2A And Type 4
Pontocerebellar Hypoplasia, Type 2E
Pontocerebellar Hypoplasia, Type 6
Primary Carnitine Deficiency
Primary Ciliary Dyskinesia (CCDC103-related)
Primary Ciliary Dyskinesia (CCDC151-related)
Primary Ciliary Dyskinesia (CCDC39-related)
Primary Ciliary Dyskinesia (DNAH5-Related)
Primary Ciliary Dyskinesia (DNAI1-Related)
Primary Ciliary Dyskinesia (DNAI2-related)
Primary Ciliary Dyskinesia (RSPH9-related)
Primary Coenzyme Q10 Deficiency 7
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 3
Progressive Cerebello-Cerebral Atrophy
Progressive Familial Intrahepatic Cholestasis, Type 2
Progressive Myoclonic Epilepsy, Type 1B
Progressive Pseudorheumatoid Dysplasia
Prolidase Deficiency
Propionic Acidemia, PCCA-Related
Propionic Acidemia, PCCB-Related
Prothrombin Thrombophilia
Pseudocholinesterase Deficiency
Pulmonary Surfactant Dysfunction
Pycnodysostosis
Pyridoxamine 5'-Phosphate Oxidase Deficiency
Pyridoxine-Dependent Epilepsy
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase E1-Alpha Deficiency
Pyruvate Dehydrogenase E1-Beta Deficiency
RTEL1-related Disorders
RYR1-related Diseases
Renal Tubular Acidosis And Deafness
Retinitis Pigmentosa 25
Retinitis Pigmentosa 26
Retinitis Pigmentosa 28
Retinitis Pigmentosa 36
Retinitis Pigmentosa 59 (DHDDS)
Retinitis Pigmentosa 64 (and Other C8orf37-related Retinal Dystrophies
Rh Deficiency Syndrome
Rhizomelic Chondrodysplasia Punctata Type 1
Rhizomelic Chondrodysplasia Punctata, Type 3
Roberts Syndrome
SMN2 COPIES
Salla Disease
Salt And Pepper Developmental Regression Syndrome
Sandhoff Disease
Sandhoff Disease
Schimke Immunoosseous Dysplasia
Segawa Syndrome
Sepiapterin Reductase Deficiency
Severe Combined Immunodeficiency (IL7R-Related)
Severe Combined Immunodeficiency (JAK3-related)
Severe Combined Immunodeficiency (PTPRC-related)
Severe Congenital Neutropenia 4
Short Chain Acyl-CoA Dehydrogenase Deficiency
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Shwachman-Diamond Syndrome
Sialidosis, Type I And Type II
Sickle Cell Disease
Sjogren-Larsson Syndrome
Smith-Lemli-Opitz Syndrome
Spastic Paraplegia Type 15
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephal
Spherocytosis, Type 5
Spinal Muscular Atrophy
Spinal Muscular Atrophy With Respiratory Distress 1 / Charcot-Marie-To
Spinocerebellar Ataxia With Axonal Neuropathy 3
Spondylocostal Dysostosis 1
Spondylometaepiphyseal Dysplasia (DDR2-related)
Spondylothoracic Dysostosis
Steel Syndrome
Steroid-resistant Nephrotic Syndrome
Stickler Syndrome (and Other COL11A2 Related Deafness Disorders)
Stuve-Wiedemann Syndrome
Sulfate Transporter-related Osteochondrodysplasia
TGM1-related Autosomal Recessive Congenital Ichthyosis
TPP1-related Neuronal Ceroid Lipofuscinosis
TRAAP-related Disease
TRPM1 Congenital Stationary Night Blindness
Tay-Sachs Disease (Counsyl)
Tay-Sachs Disease (LabCorp)
Tay-Sachs Enzyme (panel Part)
Telephone Genetic Counseling Summary
Thiamine-responsive Megaloblastic Anemia Syndrome
Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 2A
Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 4
Thyroid Dyshormonogenesis 5
Thyroid Dyshormonogenesis 6
Trichohepatoenteric Syndrome 1
Tyrosinemia Type I
Tyrosinemia Type II
USH1C-related Disorders
USH2A-related Disorders
Usher Syndrome Type 1F
Usher Syndrome Type 3
Usher Syndrome, Type ID
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Vitamin D-dependent Rickets, Type I
Vitamin D-resistant Rickets, Type IIA
Walker-Warburg Syndrome
Werner Syndrome
Wilson Disease
Wiskott-Aldrich Syndrome (WAS-related, X-linked)
Wolcott-Rallison Syndrome
Woodhouse-Sakati Syndrome
X-linked Adrenoleukodystrophy
X-linked Alport Syndrome
X-linked Congenital Adrenal Hypoplasia
X-linked Juvenile Retinoschisis
X-linked Juvenile Retinoschisis
X-linked Myotubular Myopathy
X-linked Severe Combined Immunodeficiency
Xeroderma Pigmentosum Group A
Xeroderma Pigmentosum Group C
Xeroderma Pigmentosum Variant (POLH-related)
Xeroderma Pigmentosum, Group G