Autosomal recessive multifactorial inheritance. Medical search. Frequent questions

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Anatomy10

Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 1 X Chromosome Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 6 Fundus Oculi Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 11

Organisms1

Mice, Mutant Strains

Diseases74

Polycystic Kidney, Autosomal Recessive Syndrome Abnormalities, Multiple Retinitis Pigmentosa Microcephaly Ichthyosis Hypotrichosis Intellectual Disability Ichthyosiform Erythroderma, Congenital Dwarfism Deafness Osteochondrodysplasias Genetic Diseases, Inborn Hearing Loss, Sensorineural Muscular Dystrophies Ichthyosis, Lamellar Cerebellar Ataxia Bone Diseases, Developmental Chromosome Disorders Nails, Malformed Metabolism, Inborn Errors Eye Diseases, Hereditary Genetic Predisposition to Disease Foot Deformities, Congenital Charcot-Marie-Tooth Disease Osteopetrosis Ectodermal Dysplasia Hand Deformities, Congenital Syndactyly Albinism, Oculocutaneous Dysostoses Optic Atrophy Microphthalmos Hearing Loss Cutis Laxa Eye Abnormalities Muscle Hypotonia Muscular Atrophy, Spinal Retinal Degeneration Amino Acid Metabolism, Inborn Errors Friedreich Ataxia Kidney Diseases, Cystic Spastic Paraplegia, Hereditary Hair Diseases Cystinosis Polycystic Kidney Diseases Keratoderma, Palmoplantar Bardet-Biedl Syndrome Granulomatous Disease, Chronic Facies Arthrogryposis Tooth Abnormalities Ectromelia Myotonia Congenita Craniofacial Abnormalities Spinal Muscular Atrophies of Childhood Genetic Diseases, X-Linked Fanconi Anemia Hereditary Sensory and Autonomic Neuropathies Polydactyly Acidosis, Renal Tubular Night Blindness Cataract Muscular Diseases Disease Models, Animal Limb Deformities, Congenital Ataxia Telangiectasia Familial Mediterranean Fever Dog Diseases Epidermolysis Bullosa Caroli Disease Spinocerebellar Degenerations Lipoid Proteinosis of Urbach and Wiethe Usher Syndromes

Chemicals and Drugs13

Codon, Nonsense Genetic Markers Eye Proteins Membrane Proteins Sarcoglycans Survival of Motor Neuron 1 Protein DNA, Mitochondrial DNA Primers DNA SMN Complex Proteins RNA Splice Sites Ubiquitin-Protein Ligases Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment15

Pedigree DNA Mutational Analysis Chromosome Mapping Crosses, Genetic Models, Genetic Heterozygote Detection Genetic Testing Sequence Analysis, DNA Polymerase Chain Reaction Electroretinography Facies Disease Models, Animal Prenatal Diagnosis Hybridization, Genetic Pigmentation

Psychiatry and Psychology4

Intellectual Disability Family Siblings Nuclear Family

Phenomena and Processes53

Multifactorial Inheritance Genes, Recessive Consanguinity Inheritance Patterns Mutation Homozygote Genetic Linkage Phenotype Genes, Dominant Lod Score Heterozygote Mutation, Missense Alleles Genotype Haplotypes Codon, Nonsense Heredity Exons Base Sequence Genetic Markers Frameshift Mutation Genetic Heterogeneity Extrachromosomal Inheritance Microsatellite Repeats Amino Acid Sequence Founder Effect Exome Chromosomes, Human, Pair 2 Polymorphism, Single-Stranded Conformational Point Mutation Genetic Predisposition to Disease Chromosomes, Human, Pair 1 Polymorphism, Genetic X Chromosome Gene Frequency Penetrance Sequence Deletion Polymorphism, Single Nucleotide Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 16 Genes, Lethal Genetic Variation Introns Chromosomes, Human, Pair 5 Gene Deletion Chromosomes, Human, Pair 6 Polymorphism, Restriction Fragment Length RNA Splice Sites Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 11 Hybridization, Genetic Pigmentation Genetic Loci

Disciplines and Occupations1

Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena3

Family Siblings Nuclear Family

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups4

Arabs Infant, Newborn Jews Siblings

Health Care4

Family Health Genetic Testing Age of Onset Genetic Counseling

Geographicals4

Pakistan Tunisia Lebanon Israel

Anatomy Organisms 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

Multifactorial Inheritance Genes, Recessive Consanguinity Pedigree Inheritance Patterns Mutation Homozygote Polycystic Kidney, Autosomal Recessive Genetic Linkage Syndrome Phenotype DNA Mutational Analysis Genes, Dominant Chromosome Mapping Lod Score Abnormalities, Multiple Retinitis Pigmentosa Heterozygote Mutation, Missense Microcephaly Alleles Molecular Sequence Data Crosses, Genetic Genotype Ichthyosis Hypotrichosis Haplotypes Codon, Nonsense Heredity Exons Base Sequence Genetic Markers Intellectual Disability Frameshift Mutation Ichthyosiform Erythroderma, Congenital Genetic Heterogeneity Family Health Dwarfism Deafness Extrachromosomal Inheritance Microsatellite Repeats Models, Genetic Osteochondrodysplasias Heterozygote Detection Pakistan Genetic Diseases, Inborn Hearing Loss, Sensorineural Muscular Dystrophies Amino Acid Sequence Founder Effect Ichthyosis, Lamellar Cerebellar Ataxia Bone Diseases, Developmental Genetic Testing Chromosome Disorders Exome Nails, Malformed Chromosomes, Human, Pair 2 Age of Onset Metabolism, Inborn Errors Polymorphism, Single-Stranded Conformational Point Mutation Eye Diseases, Hereditary Genetic Predisposition to Disease Arabs Chromosomes, Human, Pair 1 Foot Deformities, Congenital Sequence Analysis, DNA Polymerase Chain Reaction Charcot-Marie-Tooth Disease Osteopetrosis Ectodermal Dysplasia Family Hand Deformities, Congenital Eye Proteins Polymorphism, Genetic Infant, Newborn Syndactyly Albinism, Oculocutaneous X Chromosome Gene Frequency Dysostoses Optic Atrophy Microphthalmos Hearing Loss Cutis Laxa Electroretinography Eye Abnormalities Muscle Hypotonia Jews Muscular Atrophy, Spinal Membrane Proteins Penetrance Sarcoglycans Retinal Degeneration Amino Acid Metabolism, Inborn Errors Friedreich Ataxia Kidney Diseases, Cystic Spastic Paraplegia, Hereditary Hair Diseases

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