Genetic disorder characterized by progressive cerebellar. Medical search. Frequent questions

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Anatomy12

Brain Cells, Cultured Fibroblasts Cell Line Chromosomes, Human, Pair 22 Skin Chromosomes, Human, X Neurons Liver Kidney Muscle, Skeletal Cilia

Organisms6

Mice, Knockout Mice, Transgenic Mice, Inbred C57BL Mice, Mutant Strains Mice, Inbred mdx JC Virus

Diseases99

Genetic Diseases, Inborn Syndrome Williams Syndrome Bone Diseases, Developmental Musculoskeletal Abnormalities Metabolism, Inborn Errors Disease Models, Animal Supranuclear Palsy, Progressive Prader-Willi Syndrome Iron Metabolism Disorders Substance-Related Disorders Ataxia Telangiectasia Neurofibromatosis 1 Chromosome Disorders Progeria Abnormalities, Multiple Genetic Predisposition to Disease Tuberous Sclerosis Ectodermal Dysplasia Myositis Ossificans Pachyonychia Congenita Rare Diseases Bloom Syndrome Aphasia, Primary Progressive Disease Progression Ossification, Heterotopic Skin Diseases, Genetic Fanconi Anemia Nervous System Diseases Chondrodysplasia Punctata Tic Disorders Noonan Syndrome Cockayne Syndrome Intellectual Disability Hair Diseases Huntington Disease Sleep Disorders 22q11 Deletion Syndrome Movement Disorders Multiple Sclerosis, Chronic Progressive Lysosomal Storage Diseases Kallmann Syndrome Metal Metabolism, Inborn Errors Marfan Syndrome Lymphoproliferative Disorders Muscular Dystrophies Turner Syndrome Speech Disorders alpha 1-Antitrypsin Deficiency Myotonic Dystrophy Osteogenesis Imperfecta Hemochromatosis Microcephaly Alcohol-Related Disorders beta-Thalassemia Chromosome Aberrations Cystic Fibrosis Lipid Metabolism, Inborn Errors Hepatolenticular Degeneration Down Syndrome Hypohidrosis Menkes Kinky Hair Syndrome Acrodermatitis Dysautonomia, Familial Hydranencephaly Craniofacial Abnormalities Werner Syndrome Bardet-Biedl Syndrome Rett Syndrome Facies Xeroderma Pigmentosum Immunologic Deficiency Syndromes Myeloproliferative Disorders Dwarfism Sex Chromosome Aberrations Rothmund-Thomson Syndrome Neurofibromatoses Keratoderma, Palmoplantar Angelman Syndrome Fragile X Syndrome Osteochondrodysplasias Temporomandibular Joint Disorders Myoclonic Epilepsies, Progressive Albinism, Oculocutaneous Neurodegenerative Diseases Muscular Dystrophy, Duchenne Learning Disorders Alopecia Growth Disorders Atrophy Ophthalmoplegia, Chronic Progressive External Hermanski-Pudlak Syndrome Epidermolysis Bullosa Simplex Hemoglobinopathies Cardiovascular Abnormalities Disease Phenylketonurias Polycystic Kidney Diseases Language Disorders

Chemicals and Drugs24

Neurofibromin 1 RecQ Helicases Codon, Nonsense DNA Helicases Proteins RNA, Messenger Membrane Proteins Nerve Tissue Proteins Lamin Type A TRPP Cation Channels Fanconi Anemia Complementation Group Proteins DNA Fanconi Anemia Complementation Group G Protein DNA Primers DNA-Binding Proteins Ataxia Telangiectasia Mutated Proteins Genetic Markers Nuclear Proteins Tumor Suppressor Proteins RNA Splice Sites Carrier Proteins Dystrophin Fanconi Anemia Complementation Group C Protein Adenosine Triphosphatases

Analytical, Diagnostic and Therapeutic Techniques and Equipment29

Pedigree Disease Models, Animal Genetic Testing DNA Mutational Analysis Magnetic Resonance Imaging Prenatal Diagnosis Case-Control Studies Chromosome Mapping Treatment Outcome Risk Factors Severity of Illness Index Polymerase Chain Reaction Heterozygote Detection Genetic Therapy Prevalence Preimplantation Diagnosis Models, Biological Questionnaires Facies Sequence Analysis, DNA Retrospective Studies Follow-Up Studies Immunohistochemistry Models, Genetic Cohort Studies Gene Targeting Reproducibility of Results Analysis of Variance Reference Values

Psychiatry and Psychology40

Bipolar Disorder Mental Disorders Anxiety Disorders Mood Disorders Depressive Disorder, Major Autistic Disorder Attention Deficit Disorder with Hyperactivity Depressive Disorder Obsessive-Compulsive Disorder Stress Disorders, Post-Traumatic Psychotic Disorders Phobic Disorders Child Development Disorders, Pervasive Substance-Related Disorders Aphasia, Primary Progressive Conduct Disorder Tic Disorders Cognition Disorders Psychiatric Status Rating Scales Borderline Personality Disorder Intellectual Disability Somatoform Disorders Huntington Disease Sleep Disorders Alcohol-Related Disorders Neuropsychological Tests Combat Disorders Attention Deficit and Disruptive Behavior Disorders Schizophrenia Impulse Control Disorders Developmental Disabilities Antisocial Personality Disorder Binge-Eating Disorder Dysthymic Disorder Interview, Psychological Dissociative Disorders Learning Disorders Conversion Disorder Schizotypal Personality Disorder Neurotic Disorders

Phenomena and Processes46

Mutation Phenotype Genes, Recessive Heterozygote Consanguinity Genetic Predisposition to Disease Mutation, Missense Base Sequence Alleles Time Factors Point Mutation Genetic Linkage Genotype Homozygote Codon, Nonsense Exons Genes, Dominant Genes, Neurofibromatosis 1 Pregnancy Amino Acid Sequence Endophenotypes Chromosome Aberrations Chromosomes, Human, Pair 22 Signal Transduction Frameshift Mutation Haplotypes Polymorphism, Single Nucleotide Exome Gene Expression Regulation Gene Deletion Sex Chromosome Aberrations Aging Genetic Markers Chromosomes, Human, X Lod Score Genome, Human Genetic Vectors DNA Repair RNA Splice Sites Gene Expression Trinucleotide Repeat Expansion Polymorphism, Genetic Sequence Deletion Cell Differentiation Genetic Heterogeneity Protein Binding

Disciplines and Occupations4

Genetic Counseling Genetics, Medical Immunohistochemistry Genetic Research

Humanities1

Information Science6

Diagnostic and Statistical Manual of Mental Disorders Molecular Sequence Data Base Sequence Amino Acid Sequence Prevalence Questionnaires

Named Groups1

Infant, Newborn

Health Care18

Genetic Counseling Genetic Testing Genetic Services Case-Control Studies Treatment Outcome Risk Factors Severity of Illness Index Age of Onset Comorbidity Prevalence Family Health Questionnaires Age Factors Retrospective Studies Follow-Up Studies Cohort Studies Reproducibility of Results Analysis of Variance

Geographicals1

Mediterranean Islands

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Humanities Information Science Named Groups Health Care Geographicals

Genetic Diseases, Inborn Bipolar Disorder Mental Disorders Anxiety Disorders Mood Disorders Mutation Diagnostic and Statistical Manual of Mental Disorders Pedigree Phenotype Syndrome Williams Syndrome Bone Diseases, Developmental Musculoskeletal Abnormalities Depressive Disorder, Major Autistic Disorder Attention Deficit Disorder with Hyperactivity Metabolism, Inborn Errors Depressive Disorder Genes, Recessive Disease Models, Animal Obsessive-Compulsive Disorder Stress Disorders, Post-Traumatic Supranuclear Palsy, Progressive Genetic Counseling Prader-Willi Syndrome Genetic Testing Iron Metabolism Disorders Psychotic Disorders Phobic Disorders Child Development Disorders, Pervasive Substance-Related Disorders Molecular Sequence Data Brain Heterozygote Ataxia Telangiectasia Genetic Services Mediterranean Islands Neurofibromatosis 1 Neurofibromin 1 Chromosome Disorders Progeria Abnormalities, Multiple Eugenics Consanguinity Genetic Predisposition to Disease DNA Mutational Analysis Magnetic Resonance Imaging Tuberous Sclerosis Ectodermal Dysplasia Myositis Ossificans Pachyonychia Congenita Rare Diseases Bloom Syndrome Aphasia, Primary Progressive Mutation, Missense Base Sequence Disease Progression Conduct Disorder Prenatal Diagnosis Ossification, Heterotopic Skin Diseases, Genetic Fanconi Anemia Nervous System Diseases Chondrodysplasia Punctata Alleles Tic Disorders Time Factors Noonan Syndrome Point Mutation Genetic Linkage Cognition Disorders Genotype Psychiatric Status Rating Scales Cockayne Syndrome RecQ Helicases Homozygote Codon, Nonsense Exons Case-Control Studies Borderline Personality Disorder Intellectual Disability Hair Diseases Chromosome Mapping Genetics, Medical Infant, Newborn Somatoform Disorders Treatment Outcome Genes, Dominant Genes, Neurofibromatosis 1 Huntington Disease Cells, Cultured Sleep Disorders Pregnancy 22q11 Deletion Syndrome Movement Disorders Amino Acid Sequence Multiple Sclerosis, Chronic Progressive Risk Factors Lysosomal Storage Diseases Severity of Illness Index

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