Presence of genetic heterogeneity. Medical search. Frequent questions

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Anatomy24

Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 11 X Chromosome Chromosomes, Human, Pair 8 Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 4 Chromosomes, Human Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 13 Clone Cells Chromosomes, Human, Pair 14 Fibroblasts

Diseases43

Syndrome Genetic Predisposition to Disease Genetic Diseases, Inborn Ichthyosis Abnormalities, Multiple Bardet-Biedl Syndrome Encephalocele Retinitis Pigmentosa Deafness Microcephaly Glycosuria, Renal Leiomyoma, Epithelioid Hereditary Sensory and Motor Neuropathy Hyperkeratosis, Epidermolytic Osteochondrodysplasias Rubinstein-Taybi Syndrome Cystinuria Eye Abnormalities Optic Atrophies, Hereditary Intellectual Disability Ectodermal Dysplasia Gaucher Disease Spastic Paraplegia, Hereditary Polydactyly Chromosome Aberrations Familial Mediterranean Fever Muscular Dystrophies Glycogen Storage Disease Dysplastic Nevus Syndrome Eye Diseases, Hereditary Refsum Disease Usher Syndromes Hearing Loss, Sensorineural Malignant Hyperthermia Neoplastic Syndromes, Hereditary Hearing Loss Cerebellar Ataxia Chromosome Deletion Tuberous Sclerosis Muscular Diseases Charcot-Marie-Tooth Disease Retinal Diseases Disease Susceptibility

Chemicals and Drugs16

Genetic Markers DNA DNA, Bacterial Group II Chaperonins Glucosidases DNA Primers DNA, Mitochondrial DNA Probes Glucosylceramidase Codon, Nonsense DNA, Neoplasm Membrane Proteins DNA, Ribosomal Connexins HLA Antigens Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment32

Pedigree Chromosome Mapping DNA Mutational Analysis Models, Genetic Sequence Analysis, DNA Polymerase Chain Reaction Genetic Testing Genome-Wide Association Study Cluster Analysis Genetic Association Studies Heterozygote Detection Electrophoresis, Starch Gel DNA Fingerprinting In Situ Hybridization, Fluorescence Karyotyping Random Amplified Polymorphic DNA Technique Case-Control Studies Likelihood Functions Blotting, Southern Bacterial Typing Techniques Models, Statistical Molecular Epidemiology Gene Expression Profiling Electrophoresis, Gel, Pulsed-Field High-Throughput Nucleotide Sequencing Serotyping Comparative Genomic Hybridization Models, Biological Amino Acid Substitution Oligonucleotide Array Sequence Analysis Reproducibility of Results Cohort Studies

Psychiatry and Psychology4

Family Intellectual Disability Siblings Nuclear Family

Phenomena and Processes70

Genetic Heterogeneity Genetic Linkage Lod Score Genetic Variation Genetic Markers Genes, Dominant Genes, Recessive Phenotype Genotype Consanguinity Mutation Chromosomes, Human, Pair 2 Exome Microsatellite Repeats Haplotypes Alleles Chromosomes, Human, Pair 19 Genetic Predisposition to Disease Homozygote Penetrance Chromosomes, Human, Pair 1 Polymorphism, Genetic Base Sequence Phylogeny Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 3 Polymorphism, Restriction Fragment Length Chromosomes, Human, Pair 5 Founder Effect Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 6 Heterozygote Polymorphism, Single Nucleotide Exons Gene Frequency Mutation, Missense Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 10 Amino Acid Sequence Chromosomes, Human, Pair 11 X Chromosome Chromosomes, Human, Pair 8 Genome, Human Chromosomes, Human, Pair 22 Epistasis, Genetic Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 4 Linkage Disequilibrium Polymorphism, Single-Stranded Conformational Species Specificity Chromosomes, Human Frameshift Mutation Loss of Heterozygosity Point Mutation Chromosomes, Human, Pair 20 Chromosome Aberrations Mutation Rate Codon, Nonsense Recombination, Genetic DNA Copy Number Variations Inheritance Patterns Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 14 Genetic Loci Chromosome Deletion Amino Acid Substitution Disease Susceptibility Evolution, Molecular

Disciplines and Occupations3

Genetics, Population Molecular Epidemiology Molecular Biology

Anthropology, Education, Sociology and Social Phenomena4

Family DNA Fingerprinting Siblings Nuclear Family

Information Science6

Molecular Sequence Data Base Sequence Phylogeny Multifactor Dimensionality Reduction Amino Acid Sequence Computer Simulation

Named Groups5

Indians, South American Jews Infant, Newborn European Continental Ancestry Group Siblings

Health Care11

Family Health Age of Onset Genetic Testing Genome-Wide Association Study Cluster Analysis Case-Control Studies Likelihood Functions Models, Statistical Molecular Epidemiology Reproducibility of Results Cohort Studies

Geographicals3

Italy France Spain

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

Genetic Heterogeneity Pedigree Genetic Linkage Lod Score Genetic Variation Chromosome Mapping Genetic Markers Genes, Dominant Genes, Recessive Phenotype Genotype Consanguinity Mutation Chromosomes, Human, Pair 2 DNA Mutational Analysis Exome Microsatellite Repeats Haplotypes Syndrome Alleles Molecular Sequence Data Chromosomes, Human, Pair 19 Genetic Predisposition to Disease Homozygote Penetrance Models, Genetic Chromosomes, Human, Pair 1 Sequence Analysis, DNA Polymerase Chain Reaction Polymorphism, Genetic Base Sequence Family Health Genetic Diseases, Inborn Phylogeny Ichthyosis Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 3 Polymorphism, Restriction Fragment Length Chromosomes, Human, Pair 5 Age of Onset Founder Effect Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 6 Heterozygote Abnormalities, Multiple Polymorphism, Single Nucleotide Bardet-Biedl Syndrome Exons Genetic Testing Gene Frequency Mutation, Missense Multifactor Dimensionality Reduction Encephalocele Retinitis Pigmentosa Genome-Wide Association Study Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 12 Family Chromosomes, Human, Pair 10 Amino Acid Sequence Chromosomes, Human, Pair 11 DNA X Chromosome Deafness Cluster Analysis Indians, South American Chromosomes, Human, Pair 8 Microcephaly Genetic Association Studies Glycosuria, Renal Leiomyoma, Epithelioid Hereditary Sensory and Motor Neuropathy Genetics, Population Genome, Human Jews Hyperkeratosis, Epidermolytic Heterozygote Detection Chromosomes, Human, Pair 22 Epistasis, Genetic Osteochondrodysplasias Italy Chromosomes, Human, Pair 15 Rubinstein-Taybi Syndrome Chromosomes, Human, Pair 4 Linkage Disequilibrium Polymorphism, Single-Stranded Conformational Cystinuria Electrophoresis, Starch Gel DNA Fingerprinting Species Specificity Eye Abnormalities In Situ Hybridization, Fluorescence DNA, Bacterial Chromosomes, Human Optic Atrophies, Hereditary Intellectual Disability Ectodermal Dysplasia Frameshift Mutation Gaucher Disease

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