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Pointed Mutational Analysis (any gene from this list)

46,XX True Hermaphroditism, SRY-positive (Gonadal Dysgenesis)

  • Achondroplasia
  • Acute Promyelocytic Leukemia
  • ACYL-COA Dehydrogenase Medium-Chain, Deficiency of
  • ACYL-COA Dehydrogenase Medium-Chain, Deficiency of
  • Adiponectin (Hipoadiponectinemia)
  • Adrenal hyperplasia congenital (due to 21-hydroxylase deficiency)
  • Adrenal hyperplasia congenital (due to 21-hydroxylase deficiency)
  • Adrenal hyperplasia congenital (due to 21-hydroxylase deficiency)
  • Adrenal hyperplasia congenital (due to 21-hydroxylase deficiency)
  • Adrenal hyperplasia congenital (due to 21-hydroxylase deficiency)
  • Adrenoleukodystrophy (X-linked)
  • Adrenoleukodystrophy (X-linked)
  • Afibrinogenemia, congenital
  • Afibrinogenemia, congenital
  • Afibrinogenemia, congenital
  • Albinism oculocutaneous Type IA (OCA1A)
  • Albinism oculocutaneous Type II (OCA2)
  • Alpha-1-Antitrypsin Deficiency (AAT)
  • Alpha-Thalassaemia
  • Alpha-Thalassaemia
  • Alport Syndrome (Autosomal Dominant)
  • Alport Syndrome (Autosomal Recessive)
  • Alport Syndrome (Autosomal Recessive)
  • Alport Syndrome (X-linked, ATS)
  • Alport Syndrome (X-linked, ATS)
  • Alzheimer Disease Familial Type 1 (AD1)
  • Alzheimer Disease Familial Type 1 (AD1)
  • Alzheimer Disease Familial Type 3 (AD3)
  • Alzheimer Disease Familial Type 4 (AD4)
  • Alzheimer Disease Type 2 (AD2), Late Onset
  • Amyloidosis hereditary, transthyretin-related
  • Angelman Syndrome
  • Angelman Syndrome
  • Angelman Syndrome
  • Angelman Syndrome
  • Angioedema hereditary types I and II ( hane C1 esterase inhibitor, deficiency of).
  • Angiotensin Converting Enzyme (ACE)
  • Ankylosing Spondylitis
  • Apert Syndrome
  • Apert Syndrome
  • Apolipoprotein A-V (APOA5)
  • Arrhythmogenic Right Ventricular Dysplasia Type 10 (ARVD10)
  • Arrhythmogenic Right Ventricular Dysplasia Type 8 (ARVD8)
  • Arrhythmogenic Right Ventricular Dysplasia Type 9 (ARVD9)
  • Ataxia-telangiectasia (Louis-Bar, Syndrome)
  • Ataxia-telangiectasia (Louis-Bar, Syndrome)

B

  • Beta-Thalassaemia
  • Beta-Thalassaemia
  • Beta-Thalassaemia
  • BRAF
  • BRAF, Mutation
  • Breast-ovarian cancer familial (BRCA1 and BRCA2)
  • Breast-ovarian cancer familial (BRCA1 and BRCA2)
  • Breast-ovarian cancer familial (BRCA1)
  • Breast-ovarian cancer familial (BRCA1)
  • Breast-ovarian cancer familial (BRCA2)
  • Breast-ovarian cancer familial (BRCA2)
  • Breast-ovarian cancer, familial (BRCA1)
  • Brugada Syndrome

C

  • CADASIL (Cerebral arteriopathy, Autosomal Dominant)
  • CADASIL (Cerebral arteriopathy, Autosomal Dominant)
  • CADASIL (Cerebral arteriopathy, Autosomal Dominant)
  • CADASIL (Cerebral arteriopathy, Autosomal Dominant)
  • Campomelic Dysplasia
  • Canavan Disease
  • Cardiomyopathy Dilated (CMD1A)
  • Cardiomyopathy Dilated (CMD1D)
  • Cardiomyopathy Dilated (CMD1S)
  • Cardiomyopathy Hypertrophic familial (CMH1)
  • Cardiomyopathy Hypertrophic familial (CMH2)
  • Cardiomyopathy Hypertrophic familial (CMH4)
  • Celiac disease
  • Central Core Disease Myopathy
  • Central Core Disease Myopathy
  • Cerebral Cavernous Malformations
  • Cerebral Cavernous Malformations 1 (CCM1)
  • Cerebral Cavernous Malformations 2 (CCM2)
  • Cerebral Cavernous Malformations 3 (CCM3)
  • Charcot-Marie-Tooth 1A (CMT1A)
  • Charcot-Marie-Tooth 1B (CMT1B)
  • Charcot-Marie-Tooth 1E (CMT1E)
  • Charcot-Marie-Tooth 2A2 (CMT2A2)
  • Charcot-Marie-Tooth 2B (CMT2B)
  • Charcot-Marie-Tooth 2B (CMT2B)
  • Charge syndrome
  • Chondrodysplasia Punctata, X-linked dominant (Conradi-Hunermann syndrome)
  • Cleidocranial Dysplasia
  • Cleidocranial Dysplasia
  • Colorectal Adenomatus Polyptosis, Autosomal Recessive
  • Colorectal Adenomatus Polyptosis, Autosomal Recessive
  • Congenital bilateral absence of vas deferens (CBAVD)
  • Cowden disease
  • Cowden disease
  • Cowden disease
  • Craniofrontonasal Dysplasia
  • Craniosynostosis FGFR2 related
  • Craniosynostosis FGFR3 related
  • Craniosynostosis non syndromic
  • Crohn disease, susceptibility to
  • Crohn disease, susceptibility to
  • Crouzon syndrome
  • Crouzon syndrome
  • Crouzon syndrome with acanthosis nigricans
  • Currarino Syndrome (Sacral Agenesis Hereditary)
  • Cystic Fibrosis
  • Cystic Fibrosis
  • Deafness Type 3 (Autosomal Recessive)
  • Deafness Type 4 (Autosomal Recessive)
  • Deafness, Aminoglycoside Induced
  • Dentatorubro-pallidoluysian Atrophy (Naito-Oyanagi disease) (DRPLA)
  • Diabetes Mellitus Neonatal

D

  • Diamond-Blackfan Anemia (DBA1)
  • Diamond-Blackfan Anemia (DBA1)
  • Diamond-Blackfan Anemia (DBA10)
  • Diamond-Blackfan Anemia (DBA3)
  • Diamond-Blackfan Anemia (DBA4)
  • Diamond-Blackfan Anemia (DBA5)
  • Diamond-Blackfan Anemia (DBA6)
  • Diamond-Blackfan Anemia (DBA7)
  • Diamond-Blackfan Anemia (DBA8)
  • Diamond-Blackfan Anemia (DBA9)
  • DiGeorge syndrome, included CATCH22
  • Duchenne/Becker Muscular Dystrophy
  • Duchenne/Becker Muscular Dystrophy
  • Dysfibrinogenemia

E

  • Early-onset Torsion Dystonia (DYT1) (Autosomal dominant)
  • Ehlers-Danlos Syndrome, Type I
  • Ehlers-Danlos Syndrome, Type I
  • Ehlers-Danlos Syndrome, Type III
  • Ehlers-Danlos Syndrome, Type III
  • Ehlers-Danlos Syndrome, Type IV
  • Ehlers-Danlos Syndrome, Type VI
  • Ehlers-Danlos Syndrome, Type VII
  • Ehlers-Danlos Syndrome, Type VII
  • Ehlers-Danlos Syndrome, Type VII
  • Emery-Dreifuss Muscular Dystrophy (Autosomal Dominant) (AD-EDMD)
  • Emery-Dreifuss Muscular Dystrophy, X-linked (XL-EDMD)
  • Epidermolysis Bullosa Dystrophica (Autosomal Dominant)
  • Epidermolysis Bullosa Dystrophica (Autosomal Dominant)
  • Epidermolysis Bullosa Dystrophica (Autosomal Recessive)
  • Epidermolysis Bullosa Simplex, Weber-Cockayne Type (EBS-WC), Koebner Type (EBS-K) and Dowling-Meara (EBS-DM)
  • Epidermolysis Bullosa Simplex, Weber-Cockayne Type (EBS-WC), Koebner Type (EBS-K) and Dowling-Meara (EBS-DM)
  • Epidermolysis Bullosa Simplex, Weber-Cockayne Type (EBS-WC), Koebner Type (EBS-K) and Dowling-Meara (EBS-DM)
  • Epilepsy Pyridoxine-Dependent (AASA Dehydrogenase deficiency)
  • F
  • Fabry Disease (Galactosidase defiency)
  • Fabry Disease (Galactosidase defiency)
  • Faciogenital Dysplasia (Aarskog-Scott syndrome)
  • Facioscapulohumeral Muscular Dystrophy
  • Facioscapulohumeral Muscular Dystrophy
  • Facioscapulohumeral Muscular Dystrophy
  • Factor V Leiden Thrombophilia
  • Factor XII Deficiency
  • Factor XII Deficiency
  • Familial Adenomatous Polyposis (APC)
  • Familial Adenomatous Polyposis (APC)
  • Familial Adenomatous Polyposis (APC)
  • Familial Adenomatous Polyposis (APC)
  • Familial Mediterranean Fever (MEFV)
  • Familial Mediterranean Fever (MEFV)
  • Fatty Liver Disease Nonalcoholic, susceptibility to
  • Fetal gender prediction on peripheral maternal blood
  • Fragile X Syndrome (FRAXA)
  • Friedrich´s Ataxia
  • Frontonasal Dysplasia
  • Fuhrmann Syndrome

G

  • Gastric Cancer Hereditary Diffuse
  • Gaucher Disease (Types 1, 2 and 3)
  • Gaucher Disease (Types 1, 2 and 3)
  • Gilbert Syndrome
  • Gilbert Syndrome
  • Gilles de la Tourette Syndrome
  • Glaucoma 1 Open Angle (POAG)
  • Glaucoma Primary Congenital
  • Glucocorticoid-Supressible Hyperaldosteronism
  • Glucosa 6-fosfato deshidrogenasa, Deficiency
  • GLUT1, Deficiency Syndrome
  • Glutaric Acidemia Type I
  • Glycogen Storage disease V (McArdle disease)
  • Glycogen Storage disease V (McArdle disease)
  • Gorlin Syndrome
  • Grelina (Ghrelin, Obestatin) (Metabolic Syndrome,susceptibility to)
  • Grelina (Ghrelin, Obestatin) (Obesity, susceptibility to)
  • Grelina (Ghrelin, Obestatin) (Obesity/Metabolic Syndrome, susceptibility to)

H

  • Hemochromatosis
  • Hemochromatosis juvenile (Type 2A)
  • Hemophilia A
  • Hemophilia A
  • Hemophilia B
  • Hepatitis C virus infection, response to therapy of
  • Heterotaxy Visceral 1, X-linked (Congenital heart defects, nonsyndromic)
  • HIV infection, Resistance to
  • HLA-DQ, Genotyping
  • HLA-DR, Genotyping
  • Human Papiloma Virus (HPV)
  • Huntington Disease
  • Hypercholesterolemia (Apo B)
  • Hypercholesterolemia (Apo B)
  • Hypercholesterolemia (Apo B)
  • Hypercholesterolemia Familial (Apo B)
  • Hyperreninemic Hypoaldosteronism, Familial (Corticosterone Methyloxidase Type I)
  • Hypertension Early-onset, Autosomal Dominant
  • Hypocalciuric Hypercalcemia Familiar Type I
  • Hypochondroplasia
  • Hypochondroplasia

I

  • Ichthyosis Lamellar 1 (LI1)
  • Ichthyosis Lamellar 2 (LI2)
  • Incontinentia Pigmenti
  • Incontinentia Pigmenti

J

  • Jackson-Weiss Syndrome

K

  • Kallmann Syndrome – Type 1 (X-Linked)
  • Kallmann Syndrome – Type 2
  • Kallmann Syndrome – Type 3
  • Kallmann Syndrome – Type 4
  • Kearns-Sayre Syndrome (KSS)
  • Kenny-Caffey Syndrome (KCS1)
  • Keratosis Follicularis Spinulosa Decalvans
  • KIR Genotyping (Repetitive Abortions)
  • KRAS, Mutations
  • KRAS, Mutations

L

  • Lactose Intolerance (LCT)
  • Leber congenital amaurosis (LCA 6)
  • Leber congenital amaurosis 14 (LCA 14)
  • Leber congenital amaurosis 2 (LCA 2)
  • Leber Hereditary Optic Neuropathy (LHON) (Leber Optic Atrophy)
  • Leber Hereditary Optic Neuropathy (LHON) (Leber Optic Atrophy)
  • Leri-Weill, Dyschondrosteosis
  • Leri-Weill, Dyschondrosteosis
  • Leucemia Mieloide Crónica
  • Leukemia Acute Promyelocytic, PML/RARA type
  • Leukemia Chronic Myeloid
  • Leukocyte adhesion deficiency (LAD)
  • Leukoencephalopathy with vanishing white matter
  • Leukoencephalopathy with vanishing white matter
  • Leukoencephalopathy with vanishing white matter
  • Leukoencephalopathy with vanishing white matter
  • Leukoencephalopathy with vanishing white matter
  • Li-Fraumeni, Syndrome
  • Liddle Syndrome
  • Liddle Syndrome
  • Lipoprotein Llipase Deficiency (Hyperlipoproteinemia, Hyperlipemia Essential Familial)
  • Lipoprotein Llipase Deficiency (Hyperlipoproteinemia, Hyperlipemia Essential Familial)
  • Lipoprotein Llipase Deficiency (Hyperlipoproteinemia, Hyperlipemia Essential Familial)
  • Lipoprotein Llipase Deficiency (Hyperlipoproteinemia, Hyperlipemia Essential Familial)
  • Long QT Syndrome (LQT1)
  • Long QT Syndrome (LQT2)
  • Long QT Syndrome (LQT3)
  • Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
  • Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
  • Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
  • Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
  • Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
  • Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
  • Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)
  • Lynch Syndrome (Colorectal Cancer, Hereditary Nonpolyposis) (HNPCC)

M

  • Machado-Joseph Disease (MJD) (SCA3)
  • Malignant Hyperthermia, Susceptibility to
  • Marfan Syndrome
  • Marfan Syndrome
  • Marfan Type 2A Syndrome (Loeys-Dietz, Syndrome) (LDS2A)
  • Marfan Type 2B Syndrome (Loeys-Dietz, Syndrome) (LDS2B)
  • Marinesco-Sjögren Syndrome
  • Mastocytosis
  • Mastocytosis
  • Mastocytosis cutaneous diffuse
  • Mastocytosys with associated hematologic disorder
  • Maternal Cell Contamination, on prenatal samples
  • McArdle Disease (Glycogen Storage Disease V, Myophosphorylase Deficiency)
  • McArdle Disease (Glycogen Storage Disease V, Myophosphorylase Deficiency)
  • Medullary thyroid carcinoma (FMTC)
  • Medullary thyroid carcinoma (FMTC)
  • Melanoma Hereditary
  • MELAS Syndrome (Encephalopaty mitochondrial)
  • MEN 1 – Multiple Endocrine Neoplasia Type I
  • MEN 1 – Multiple Endocrine Neoplasia Type I
  • MEN 2A – Multiple Endocrine Neoplasia Type 2A (Sipple Syndrome)
  • MEN 2A – Multiple Endocrine Neoplasia Type 2A (Sipple Syndrome)
  • MEN 2A – Multiple Endocrine Neoplasia Type 2A (Sipple Syndrome)
  • MEN 2B -Multiple Endocrine Neoplasia Type IIB
  • MEN 2B -Multiple Endocrine Neoplasia Type IIB
  • Menkes Disease
  • Menkes Disease
  • Methemoglobinemia
  • Microdeletions and chromosome (Spermatogenic Failure non-obstructive, Azoospermia)
  • MODY 2
  • MODY 3
  • MTHFR Methylenetetrahydrofolate reductase (Homocystinuria)
  • MTHFR Methylenetetrahydrofolate reductase (Homocystinuria)
  • Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)
  • Mucopolysacharidosis Type IV A (Morquio Syndrome A, Galactosamine-6-Sulfatase Deficiency)
  • Mucopolysacharidosis Type IV B (Morquio Syndrome B)
  • Muenke Syndrome
  • Multiminicore Disease (MmD)
  • Multiminicore Disease (MmD)
  • Multiminicore Disease (MmD)
  • Multiminicore Disease (MmD)
  • Multiminicore Disease (MmD)
  • Multiminicore Disease (MmD)
  • Myelofibrosis
  • Myeloproliferative disorder with erythrocytosis JAK2 related (Polycythemia Vera, Thrombocythemia Essential and Myelofibrosis)
  • Myopathy Centronuclear
  • Myotonia Congenita Dominant (Thomsen Disease; Becker Disease)
  • Myotonic Dystrophy Type 1 (DM1) (Steinert disease)

N

  • Neuroblastoma, Susceptibility to (NBLST1)
  • Neuroblastoma, Susceptibility to (NBLST2)
  • Neuroblastoma, Susceptibility to (NBLST3)
  • Neurofibromatosis Type II (NF2)
  • Neurofibromatosis Type II (NF2)
  • Neurofribromatosis Type I (NF1)
  • Neurofribromatosis Type I (NF1)
  • Neuropathy Hereditary With Liability to Pressure Palsies (HNPP)
  • Neuropathy Hereditary With Liability to Pressure Palsies (HNPP)
  • Neurosensory Nonsyndromic Recessive Deafness
  • Neurosensory Nonsyndromic Recessive Deafness
  • Neurosensory Nonsyndromic Recessive Deafness
  • Neurosensory Nonsyndromic Recessive Deafness
  • Neutropenia Severe Congenital
  • Niemann-Pick Disease (Types A and B)
  • Non Small Cell Lung Cancer (NSCLC)
  • Noonan Syndrome

O

  • Obesity Morbid
  • Oculopharyngeal Muscular Dystrophy
  • Optic Atrophy Dominant Type 1 (ADOA)
  • Optic Atrophy Dominant Type 1 (ADOA)
  • Optic Atrophy Dominant Type 1 (ADOA)
  • Optic Atrophy Type 3 with cataract
  • Optic Atrophy Type 3 with cataract
  • Ornithine transcarbamylase deficiency
  • Ornithine transcarbamylase deficiency
  • Osteogenesis Imperfecta
  • Osteogenesis Imperfecta
  • Osteogenesis Imperfecta

P

  • Pancreatitis Hereditary
  • Pancreatitis Hereditary
  • Pancreatitis Hereditary
  • Pancreatitis Hereditary
  • Pancreatitis Hereditary
  • Parkinson Disease 8 (Autosomal Dominant)
  • Parkinson Disease 8 (Autosomal Dominant)
  • Parkinson Juvenile Disease
  • Parkinson Juvenile Disease
  • Peutz-Jeghers Syndrome
  • Pfeiffer Syndrome
  • Pfeiffer Syndrome
  • Pfeiffer Syndrome
  • Pfeiffer Syndrome
  • Phenylketonuria (PAH)
  • Phenylketonuria (PAH)
  • Pheochromocytoma and/or Paragaglioma
  • Pheochromocytoma and/or Paragaglioma
  • Pheochromocytoma and/or Paragaglioma
  • Plasminogen Activator Inhibitor 1 Deficiency
  • Polycystic Kidney Autosomal Recessive (ARPKD)
  • Polycystic Kidney Syndrome, Autosomal Dominant
  • Polycystic Kidney Syndrome, Autosomal Dominant
  • Polycythemia Vera
  • Porphyria Variegata
  • Prader Willi Syndrome
  • Prader Willi Syndrome
  • Prader Willi Syndrome
  • Prothrombin Thrombophilia (Factor II)
  • Pseudoarylsulfatase A Deficiency (Metachromatic leukodystrophy )
  • Pseudohypoaldosteronism Type I, Autosomal Dominant
  • Pulmonary Hypertension Primary (PPH1)
  • Pulmonary Hypertension Primary (PPH1)
  • R
  • Retinitis Pigmentosa Autosomal Dominant
  • Retinitis Pigmentosa Autosomal Recessive
  • Retinitis Pigmentosa Autosomal Recessive
  • Retinitis Pigmentosa Autosomal Recessive
  • Retinitis Pigmentosa Autosomal Recessive
  • Retinitis Pigmentosa X-linked
  • Retinitis Pigmentosa X-linked
  • Retinitis Pigmentosa X-linked
  • Retinoblastoma
  • Retinoblastoma
  • Retinoschisis 1 Juvenile, X-Linked
  • Rett Syndrome
  • Rett Syndrome
  • Rubinstein-Taybi Syndrome
  • Rubinstein-Taybi Syndrome

S

  • Sanjad-Sakati Syndrome (HRD)
  • “Serotonin Transporter SERT (Obsessive-compulsive disorder)”
  • Severe Myoclonic epilepsy of infancy (Dravet Syndrome) (SMEI)
  • Severe Myoclonic epilepsy of infancy (Dravet Syndrome) (SMEI)
  • Short Stature, idiopathic
  • Short Stature, idiopathic
  • Sickle cell anemia
  • Sickle cell anemia
  • Smith-Lemli-Opitz Syndrome (SLOS)
  • Smith-Lemli-Opitz Syndrome (SLOS)
  • Spastic Paraplegia (Pelizaeus-Merzbacher Disease)
  • Spastic Paraplegia (Pelizaeus-Merzbacher Disease)
  • Spastic Paraplegia Familiar (Autosomal Dominant)
  • Spastic Paraplegia Familiar (Autosomal Dominant)
  • Spherocytosis Type 1 (SPH1)
  • Spherocytosis Type 2 (SPH2)
  • Spherocytosis Type 3 (SPH3)
  • Spherocytosis Type 4 (SPH4)
  • Spherocytosis Type 5 (SPH5)
  • Spinal and Bulbar Muscular Atrophy of Kennedy (SBMA)
  • Spinal Muscular Atrophy (SMA-LED) (Kugelberg-Welander Syndrome)
  • Spinal Muscular Atrophy (SMA)
  • Spinal Muscular Atrophy (SMA)
  • Spinocerebellar Ataxia 12, SCA12
  • Spinocerebellar Ataxia Dominant SCA1
  • Spinocerebellar Ataxia Dominant SCA17
  • Spinocerebellar Ataxia Dominant SCA2
  • Spinocerebellar Ataxia Dominant SCA3 (Machado-Joseph Disease)
  • Spinocerebellar Ataxia Dominant SCA5
  • Spinocerebellar Ataxia Dominant SCA6
  • Spinocerebellar Ataxia Dominant SCA7
  • Spinocerebellar Ataxia Dominant SCA8
  • Squamous Cell Carcinoma, Head and Neck
  • Squamous Cell Carcinoma, Head and Neck
  • Stickler Syndrome Type 1
  • Stickler Syndrome Type 1 (Arthroophthalmopathy)
  • Stickler Syndrome Type 2
  • Supravalvar Aortic Stenosis (SVAS)
  • Supravalvular Aortica Stenosis (SVAS)

T

  • Tay-Sachs Disease
  • Telangiectasia Hereditary Hemorragic (Osler-Weber-Rendu Disease) (HHT)
  • Telangiectasia Hereditary Hemorragic (Osler-Weber-Rendu Disease) (HHT)
  • Telangiectasia Hereditary Hemorragic (Osler-Weber-Rendu Disease) (HHT1)
  • Telangiectasia Hereditary Hemorragic (Osler-Weber-Rendu Disease) (HHT2)
  • Telangiectasia Hereditary Hemorragic (Osler-Weber-Rendu Disease) (JPHT, HHT, Juvenile polyposis)
  • Thanatophoric Dysplasia Type I
  • Thanatophoric Dysplasia Type I and Type II
  • Thanatophoric Dysplasia Type II
  • Thrombocythemia Essential
  • Thyroid Hormone Resistance
  • Treacher Collins Syndrome
  • Trichorhinophalangeal Syndrome
  • Trimethylaminuria
  • Tuberous Sclerosis
  • Tuberous Sclerosis
  • Tuberous Sclerosis
  • Tuberous Sclerosis
  • Tuberous Sclerosis

V

  • Vitelliform Macular Distrophy (Best disease)
  • Von Hippel Lindau Disease
  • Von Hippel Lindau Disease
  • Von Willebrand Disease Type 1 (VWD1)
  • Von Willebrand Disease Type 1 (VWD1)
  • Von Willebrand Disease Type 2A (VWD2)
  • Von Willebrand Disease Type 2A (VWD2)
  • Von Willebrand Disease Type 2N (VWDN)
  • Von Willebrand Disease Type 3 (VWD3)

W

  • Waardenburg Syndrome (Type 2E)
  • Waardenburg Syndrome (Type 4C)
  • Williams Syndrome (Williams-Beuren Syndrome)
  • Williams Syndrome (Williams-Beuren Syndrome)
  • Wilson Disease
  • Wilson Disease
  • Wiskott-Aldrich Syndrome

X

  • Xeroderma Pigmentosum Complementation Group C (XPC)
  • Xeroderma Pigmentosum Complementation Group D (XPD)
  • Xeroderma Pigmentosum Variant Type (XPV)