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Aarskog Syndrome Tests OMIM
ABCA1-Related Disorders Tests OMIM
ABCA1-Related Familial High Density Lipoprotein Deficiency OMIM
Tangier Disease OMIM
ABCC8-Related Transient Neonatal Diabetes Mellitus 2 Tests OMIM
Abetalipoproteinemia Tests OMIM
Absence of Ulna and Fibula with Severe Limb Deficiency Tests OMIM
Achalasia-Addisonianism-Alacrima Syndrome Tests OMIM
Achondrogenesis Type IA Tests OMIM
Achondroplasia Tests GeneReview OMIM
Achromatopsia GeneReview OMIM
Achromatopsia 2 Tests OMIM
Achromatopsia 3 Tests OMIM
Achromatopsia 4 Tests OMIM
Achromatopsia 5 Tests OMIM
Achromatopsia 6 OMIM
Acid Sphingomyelinase Deficiency Tests GeneReview OMIM
Niemann-Pick Disease Type A
Niemann-Pick Disease Type B
Acid-Labile Subunit Deficiency Tests OMIM
Acrocallosal Syndrome Tests OMIM
Acrodermatitis Enteropathica, Zinc-Deficiency Type Tests OMIM
Acrodysostosis 1, with or without Hormone Resistance Tests OMIM
Acrodysostosis 2, with or without Hormone Resistance Tests OMIM
Acromesomelic Dysplasia, Hunter-Thompson Type Tests OMIM
Acromesomelic Dysplasia, Maroteaux Type Tests OMIM
Acromicric Dysplasia Tests OMIM
ACTH Deficiency Tests OMIM
Acute Hepatic Porphyria Tests OMIM
Acute Intermittent Porphyria Tests GeneReview OMIM
Acute Myeloid Leukemia, Susceptibility, GATA2-Related Tests OMIM
Acyl-CoA Dehydrogenase 9 Deficiency Tests OMIM
Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency Tests OMIM
Adams-Oliver Syndrome 1 Tests OMIM
Adams-Oliver Syndrome 2 Tests OMIM
ADAMTSL4-Related Eye Disorders Tests GeneReview OMIM
Autosomal Recessive Isolated Ectopia Lentis
Ectopia Lentis et Pupillae
Adenine Phosphoribosyltransferase Deficiency Tests GeneReview OMIM
Adenosine Deaminase Deficiency Tests GeneReview OMIM
Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease (SCID)
Delayed-/Late-Onset Adenosine Deaminase Deficiency
Partial Adenosine Deaminase Deficiency
Adenylosuccinase Deficiency Tests OMIM
Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or Complete Tests OMIM
Adrenoleukodystrophy, X-Linked Tests GeneReview OMIM
Adrenomyeloneuropathy
Adult i Blood Group with or without Congenital Cataract Tests OMIM
Agammaglobulinemia 1, Autosomal Recessive Tests OMIM
Age-Related Macular Degeneration Tests OMIM
Age-Related Macular Degeneration 1 OMIM
Age-Related Macular Degeneration 2 OMIM
Age-Related Macular Degeneration 3 OMIM
Age-Related Macular Degeneration 4 OMIM
Age-Related Macular Degeneration 5 OMIM
Age-Related Macular Degeneration 6 OMIM
Age-Related Macular Degeneration 7 OMIM
Age-Related Macular Degeneration 8 OMIM
Age-Related Macular Degeneration 9 OMIM
Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia Tests OMIM
Aicardi Syndrome GeneReview OMIM
Aicardi-Goutieres Syndrome GeneReview OMIM
RNASEH2A-Related Aicardi-Goutieres Syndrome Tests OMIM
Aicardi-Goutieres Syndrome 4
RNASEH2B-Related Aicardi-Goutieres Syndrome Tests OMIM
Aicardi-Goutieres Syndrome 2
RNASEH2C-Related Aicardi-Goutieres Syndrome Tests OMIM
Aicardi-Goutieres Syndrome 3
SAMHD1-Related Aicardi-Goutieres Syndrome Tests OMIM
Aicardi-Goutieres Syndrome 5
TREX1-Related Aicardi-Goutieres Syndrome Tests OMIM
Aicardi-Goutieres Syndrome 1
Aicardi-Goutieres Syndrome Multi-Gene Panels Tests
AIP-Related Familial Isolated Pituitary Adenomas Tests GeneReview OMIM
Alagille Syndrome GeneReview OMIM
JAG1-Related Alagille Syndrome Tests OMIM
NOTCH2-Related Alagille Syndrome Tests OMIM
Albinism Multi-Gene Panels Tests
ALDH18A1-Related Cutis Laxa Tests OMIM
Aldolase A Deficiency Tests OMIM
Alexander Disease Tests GeneReview OMIM
Alkaptonuria Tests GeneReview OMIM
Alpha-Mannosidosis Tests GeneReview OMIM
Alpha-Methylacyl-CoA Racemase Deficiency Tests OMIM
Alpha-Thalassemia Tests GeneReview OMIM
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome Tests GeneReview OMIM
Alpha1-Antitrypsin Deficiency Tests GeneReview OMIM
Alport Syndrome and Thin Basement Membrane Nephropathy GeneReview OMIM
COL4A3-Related Nephropathy Tests OMIM
COL4A4-Related Nephropathy Tests OMIM
COL4A5-Related Nephropathy Tests OMIM
Alstrom Syndrome Tests GeneReview OMIM
Alternating Hemiplegia of Childhood OMIM
ATP1A2-Related Alternating Hemiplegia of Childhood Tests OMIM
ATP1A3-Related Alternating Hemiplegia of Childhood Tests OMIM
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Tests OMIM
Alzheimer Disease GeneReview OMIM
Early-Onset Familial Alzheimer Disease GeneReview OMIM
Alzheimer Disease Type 1 Tests OMIM
Alzheimer Disease Type 3 Tests OMIM
Alzheimer Disease Type 4 Tests OMIM
Late-Onset Familial Alzheimer Disease OMIM
Alzheimer Disease Type 2 OMIM
Alzheimer Disease Type 5 OMIM
Alzheimer Disease Risk Factor (APOE Genotype) Tests OMIM
Amegakaryocytic Thrombocytopenia, Congenital Tests OMIM
Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome Tests OMIM
Amelogenesis Imperfecta, Hypomaturation Type, IIA1 Tests OMIM
Amelogenesis Imperfecta, Hypomaturation Type, IIA2 Tests OMIM
Amelogenesis Imperfecta, Hypomaturation Type, IIA3 Tests OMIM
Amelogenesis Imperfecta, Type 1E Tests OMIM
Amelogenesis Imperfecta, Type IB Tests OMIM
Amelogenesis Imperfecta, Type IC Tests OMIM
Amelogenesis Imperfecta, Type III Tests OMIM
Amelogenesis Imperfecta, Type IV Tests OMIM
Amino Adipic Aciduria Tests OMIM
Amish Infantile Epilepsy Syndrome Tests OMIM
Amish Lethal Microcephaly Tests GeneReview OMIM
Amyloidosis V Tests OMIM
Amyotrophic Lateral Sclerosis GeneReview OMIM
ALS2-Related Disorders Tests GeneReview OMIM
Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis
Infantile Onset Ascending Hereditary Spastic Paralysis
Juvenile Primary Lateral Sclerosis
ANG-Related Amyotrophic Lateral Sclerosis Tests OMIM
C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Tests OMIM
FIG4-Related Amyotrophic Lateral Sclerosis Tests OMIM
FUS-Related Amyotrophic Lateral Sclerosis Tests OMIM
OPTN-Related Amyotrophic Lateral Sclerosis Tests OMIM
PFN1-Related Amyotrophic Lateral Sclerosis Tests OMIM
SETX-Related Amyotrophic Lateral Sclerosis Tests OMIM
SOD1-Related Amyotrophic Lateral Sclerosis Tests OMIM
TARDBP-Related Amyotrophic Lateral Sclerosis Tests GeneReview OMIM
UBQLN2-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Tests OMIM
VAPB-Related Amyotrophic Lateral Sclerosis Tests OMIM
VCP-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Tests OMIM
Amyotrophic Lateral Sclerosis Multi-Gene Panels Tests
Andersen-Tawil Syndrome GeneReview OMIM
Andersen Syndrome Type 1 Tests OMIM
Andersen Syndrome Type 2 OMIM
Androgen Insensitivity Syndrome Tests GeneReview OMIM
Complete Androgen Insensitivity Syndrome
Mild Androgen Insensitivity Syndrome
Partial Androgen Insensitivity Syndrome
Angelman Syndrome Tests GeneReview OMIM
Anhaptoglobinemia Tests OMIM
Aniridia GeneReview OMIM
Isolated Aniridia Tests OMIM
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Tests OMIM
Aniridia, Cerebellar Ataxia, And Mental Retardation Tests OMIM
ANK1-Related Spherocytosis Tests OMIM
ANKRD26-Related Thrombocytopenia 2 Tests OMIM
Anonychia Congenita Tests OMIM
Anophthalmia/Microphthalmia GeneReview OMIM
PAX6-Related Anophthalmia Tests OMIM
RAX-Related Anophthalmia/Microphthalmia Tests OMIM
SIX6-Related Eye Disorders Tests OMIM
SOX2-Related Eye Disorders Tests GeneReview OMIM
Anophthalmia-Esophageal Atresia-Genital Abnormalities Syndrome
SOX2 Anophthalmia Syndrome
Antenatal Bartter Syndrome Type 1 Tests OMIM
Antenatal Bartter Syndrome Type 2 Tests OMIM
Anterior Segment Mesenchymal Dysgenesis OMIM
FOXE3-Related Anterior Segment Mesenchymal Dysgenesis Tests OMIM
PITX3-Related Anterior Segment Mesenchymal Dysgenesis Tests OMIM
APC-Associated Polyposis Conditions Tests GeneReview OMIM
Attenuated FAP
Familial Adenomatous Polyposis
Gardner Syndrome
Turcot Syndrome OMIM
Aplasia of Lacrimal and Salivary Glands Tests OMIM
Aplastic Anemia, IFNG-Related Tests OMIM
Aplastic Anemia, TERC-Related Tests OMIM
Aplastic Anemia, TERT-Related Tests OMIM
APOA1-Related Familial Visceral Amyloidosis Tests OMIM
Apolipoprotein A-II Deficiency Tests OMIM
Apolipoprotein C-II Deficiency Tests OMIM
Apparent Mineralocorticoid Excess Syndrome Tests OMIM
Aromatase Deficiency Tests OMIM
Aromatic L-Amino Acid Decarboxylase Deficiency Tests OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy GeneReview OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 1 Tests OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2 Tests OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 3 OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 4 OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5 Tests OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 6 OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 7 OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8 Tests OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9 Tests OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10 Tests OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11 Tests OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy12 Tests OMIM
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Multi-Gene Panels Tests
ARSACS Tests GeneReview OMIM
Arterial Calcification, Generalized, of Infancy Tests OMIM
Arterial Tortuosity Syndrome Tests OMIM
Arthrogryposis Multiplex Congenita, Distal, Type 1 Tests OMIM
Arthrogryposis Multiplex Congenita, Distal, Type 2B OMIM
MYH3-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B Tests OMIM
TNNI2-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B Tests OMIM
TNNT3-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B Tests OMIM
TPM2-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B Tests OMIM
Arthrogryposis, Distal, Type 1B Tests OMIM
Arthrogryposis, Distal, Type 2A Tests OMIM
Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome OMIM
VIPAS39-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Tests OMIM
VPS33B-Related Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Tests OMIM
ARX-Related Disorders Tests OMIM
Agenesis of Corpus Callosum with Abnormal Genitalia OMIM
Epileptic Encephalopathy, Early Infantile, 1 OMIM
Partington X-Linked Mental Retardation Syndrome OMIM
X-Linked Lissencephaly with Ambiguous Genitalia OMIM
X-Linked Mental Retardation 54 OMIM
Arylsulfatase A Deficiency Tests GeneReview OMIM
Ashkenazi Jewish Carrier Multi-Gene Panels Tests
Aspartylglycosaminuria Tests OMIM
Asphyxiating Thoracic Dystrophy OMIM
Asphyxiating Thoracic Dystrophy 1 OMIM
Asphyxiating Thoracic Dystrophy 2 Tests OMIM
Asphyxiating Thoracic Dystrophy 3 Tests OMIM
Asphyxiating Thoracic Dystrophy 4 Tests OMIM
Asphyxiating Thoracic Dystrophy 5 Tests OMIM
Asthma, Susceptibility to Tests OMIM
Astley-Kendall Dysplasia
Ataxia with Oculomotor Apraxia 1 Tests GeneReview OMIM
Ataxia with Oculomotor Apraxia 2 Tests GeneReview OMIM
Ataxia with Vitamin E Deficiency Tests GeneReview OMIM
Ataxia-Telangiectasia Tests GeneReview OMIM
Ataxia-Telangiectasia-Like Disorder Tests OMIM
Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate Tests OMIM
ATP6V0A2-Related Cutis Laxa Tests GeneReview OMIM
Debre-Type Cutis Laxa
Wrinkly Skin Syndrome
ATP7A-Related Copper Transport Disorders Tests GeneReview OMIM
ATP7A-Related Distal Motor Neuropathy
Menkes Disease OMIM
Occipital Horn Syndrome
Atransferrinemia Tests OMIM
Atrial Septal Defect 3 Tests OMIM
Atrial Septal Defect 5 Tests OMIM
Atrichia with Papular Lesions Tests OMIM
Atypical Hemolytic-Uremic Syndrome GeneReview OMIM
C3-Related Atypical Hemolytic-Uremic Syndrome Tests OMIM
CD46-Related Atypical Hemolytic-Uremic Syndrome Tests OMIM
CFB-Related Atypical Hemolytic-Uremic Syndrome Tests OMIM
CFH-Related Atypical Hemolytic-Uremic Syndrome Tests OMIM
CFHR1 and CFHR4-Related Atypical Hemolytic-Uremic Syndrome OMIM
CFHR3 and CFHR1-Related Atypical Hemolytic-Uremic Syndrome Tests OMIM
CFI-Related Atypical Hemolytic-Uremic Syndrome Tests OMIM
THBD-Related Atypical Hemolytic-Uremic Syndrome Tests OMIM
Atypical Werner Syndrome Tests OMIM
Auriculocondylar Syndrome 2 Tests OMIM
Autism Multi-Gene Panels Tests
Autism Spectrum Disorders Tests GeneReview OMIM
Asperger Disorder
Autistic Disorder OMIM
Childhood Disintegrative Disorder
Pervasive Developmental Disorder Not Otherwise Specified
Autoimmune Lymphoproliferative Syndrome GeneReview OMIM
CASP10-Related Autoimmune Lymphoproliferative Syndrome Tests OMIM
Autoimmune Lymphoproliferative Syndrome, Type II
FAS-Related Autoimmune Lymphoproliferative Syndrome Tests OMIM
Autoimmune Lymphoproliferative Syndrome, Type 0
Autoimmune Lymphoproliferative Syndrome, Type Ia
FASLG-Related Autoimmune Lymphoproliferative Syndrome Tests OMIM
Autoimmune Lymphoproliferative Syndrome, Type Ib
Autoimmune Polyendocrinopathy Syndrome Type 1 Tests OMIM
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome Tests OMIM
Autosomal Dominant Familial Periodic Fever Tests OMIM
Autosomal Dominant Hyper IgE Syndrome Tests GeneReview OMIM
Autosomal Dominant Partial Epilepsy with Auditory Features Tests GeneReview OMIM
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease with Vocal Cord Paresis Tests OMIM
Autosomal Recessive Congenital Ichthyosis GeneReview OMIM
ABCA12-Related Autosomal Recessive Congenital Ichthyosis Tests OMIM
Harlequin Ichthyosis OMIM
ALOX12B-Related Autosomal Recessive Congenital Ichthyosis Tests OMIM
ALOXE3-Related Autosomal Recessive Congenital Ichthyosis Tests OMIM
CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Tests OMIM
NIPAL4-Related Autosomal Recessive Congenital Ichthyosis Tests OMIM
PNPLA1-Related Autosomal Recessive Congenital Ichthyosis Tests OMIM
TGM1-Related Autosomal Recessive Congenital Ichthyosis Tests OMIM
Autosomal Recessive Hyper IgE Syndrome Tests OMIM
Autosomal Recessive Sensory Neuropathy with Spastic Paraplegia Tests OMIM
Avellino Corneal Dystrophy Tests OMIM
Axenfeld-Rieger Syndrome OMIM
Axenfeld-Rieger Syndrome, Type 1 Tests OMIM
Axenfeld-Rieger Syndrome, Type 2 OMIM
Axenfeld-Rieger Syndrome, Type 3 Tests OMIM
Azoospermia due to Perturbations of Meiosis Tests OMIM
BAAT-Related Familial Hypercholanemia Tests OMIM
Band-Like Calcification with Simplified Gyration and Polymicrogyria Tests OMIM
Baraitser-Winter Syndrome 1 Tests OMIM
Baraitser-Winter Syndrome 2 Tests OMIM
BARD1-Related Susceptibility to Breast Cancer Tests OMIM
Bardet-Biedl Syndrome GeneReview OMIM
ARL6-Related Bardet-Biedl Syndrome Tests OMIM
BBS1-Related Bardet-Biedl Syndrome Tests OMIM
BBS10-Related Bardet-Biedl Syndrome Tests OMIM
BBS12-Related Bardet-Biedl Syndrome Tests OMIM
BBS2-Related Bardet-Biedl Syndrome Tests OMIM
BBS4-Related Bardet-Biedl Syndrome Tests OMIM
BBS5-Related Bardet-Biedl Syndrome Tests OMIM
BBS7-Related Bardet-Biedl Syndrome Tests OMIM
BBS9-Related Bardet-Biedl Syndrome Tests OMIM
CEP290-Related Bardet-Biedl Syndrome Tests OMIM
MKKS-Related Bardet-Biedl Syndrome Tests OMIM
MKS1-Related Bardet-Biedl Syndrome Tests OMIM
SDCCAG8-Related Bardet-Biedl Syndrome Tests OMIM
TRIM32-Related Bardet-Biedl Syndrome Tests OMIM
TTC8-Related Bardet-Biedl Syndrome Tests OMIM
WDPCP-Related Bardet-Biedl Syndrome Tests OMIM
Bardet-Biedl Syndrome Multi-Gene Panels Tests
Bare Lymphocyte Syndrome, Type II, Complementation Group A Tests OMIM
Bare Lymphocyte Syndrome, Type II, Complementation Group D Tests OMIM
Bare Lymphocyte Syndrome, Type II, Complementation Group E Tests OMIM
Bartter Syndrome Type 3 Tests OMIM
Bartter Syndrome Type 4A Tests OMIM
Bartter Syndrome Type 4B Tests OMIM
Basal Laminar Drusen Tests OMIM
Beckwith-Wiedemann Syndrome Tests GeneReview OMIM
Benign Chronic Pemphigus Tests OMIM
Benign Familial Infantile Seizures 2 Tests OMIM
Benign Familial Neonatal Infantile Seizures Tests OMIM
Berardinelli-Seip Congenital Lipodystrophy GeneReview OMIM
Berardinelli-Seip Congenital Lipodystrophy Type 1 Tests OMIM
Berardinelli-Seip Congenital Lipodystrophy Type 2 Tests OMIM
Bernard-Soulier Syndrome Type A Tests OMIM
Bernard-Soulier Syndrome Type B Tests OMIM
Bernard-Soulier Syndrome Type C Tests OMIM
Best Vitelliform Macular Dystrophy Tests GeneReview OMIM
Beta-Mannosidosis Tests OMIM
Beta-Thalassemia Tests GeneReview OMIM
Thalassemia Intermedia
Thalassemia Major
Thalassemia Minor
Beta-Ureidopropionase Deficiency Tests OMIM
BH4-Deficient Hyperphenylalaninemia C Tests OMIM
BH4-Deficient Hyperphenylalaninemia D Tests OMIM
Bietti Crystalline Dystrophy Tests GeneReview OMIM
Bile Acid Synthesis Defect, Congenital, 2 Tests OMIM
Bile Acid Synthesis Defect, Congenital, 3 Tests OMIM
Biotin-Responsive Basal Ganglia Disease Tests OMIM
Biotin-Responsive Multiple Carboxylase Deficiencies
Biotinidase Deficiency Tests GeneReview OMIM
Holocarboxylase Synthetase Deficiency Tests OMIM
Birk-Barel Mental Retardation Dysmorphism Syndrome Tests OMIM
Birt-Hogg-Dube Syndrome Tests GeneReview OMIM
Blau Syndrome Tests OMIM
Blepharophimosis, Ptosis, and Epicanthus Inversus Tests GeneReview OMIM
BPES I
BPES II
Bloom's Syndrome GeneReview OMIM
Blue-Mono-Cone-Monochromatic Type Colorblindness Tests OMIM
Bohring-Opitz Syndrome Tests OMIM
Bone Marrow Failure, Familial Tests OMIM
Borjeson-Forssman-Lehmann Syndrome Tests OMIM
Brachydactyly Type A1 Tests OMIM
Brachydactyly Type A2 Tests OMIM
Brachydactyly Type C Tests OMIM
Brachydactyly, Type B2 Tests OMIM
Brachydactyly, Type E2 Tests OMIM
Brachyolmia Type 2 Tests OMIM
Brachyolmia Type 3 Tests OMIM
Branchiooculofacial Syndrome Tests GeneReview OMIM
Branchiootorenal Spectrum Disorders GeneReview OMIM
EYA1-Related Branchiootorenal Spectrum Disorders Tests OMIM
SIX1-Related Branchiootorenal Spectrum Disorders Tests OMIM
SIX5-Related Branchiootorenal Spectrum Disorders Tests OMIM
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer GeneReview OMIM
BRCA1 Hereditary Breast and Ovarian Cancer Tests OMIM
BRCA2 Hereditary Breast and Ovarian Cancer Tests OMIM
BRIP1-Related Breast Cancer Tests OMIM
Brittle Cornea Syndrome 1 Tests OMIM
Brittle Cornea Syndrome 2 Tests OMIM
Brody Myopathy Tests OMIM
Bronchiectasis with or without Elevated Sweat Chloride 2 Tests OMIM
Brooke-Spiegler Syndrome Tests OMIM
Brown-Vialetto-Van Laere Syndrome Tests OMIM
Bruck Syndrome 2 Tests OMIM
Brugada Syndrome GeneReview OMIM
Brugada Syndrome 1 Tests OMIM
Brugada Syndrome 2 Tests OMIM
Brugada Syndrome 3 Tests OMIM
Brugada Syndrome 4 Tests OMIM
Brugada Syndrome 5 Tests OMIM
Brugada Syndrome 6 Tests OMIM
Brugada Syndrome 7 Tests OMIM
Brugada Syndrome 8 Tests OMIM
Brugada Syndrome Multi-Gene Panels Tests
Brunner Syndrome Tests OMIM
BSCL2-Related Neurologic Disorders/Seipinopathy Tests GeneReview OMIM
Distal Hereditary Motor Neuropathy Type V
Silver Syndrome
Spastic Paraplegia 17
Buschke-Ollendorff Syndrome Tests OMIM
Butyrylcholinesterase Deficiency Tests OMIM