Autosomal genes recessive. Medical search. Frequent questions

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Anatomy19

X Chromosome Sex Chromosomes Y Chromosome Chromosomes, Insect Chromosomes, Human, X Testis Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 19 Skin Chromosomes, Human, Pair 6 Fibroblasts Chromosomes, Human, Pair 5 Fundus Oculi Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 11 Hybrid Cells

Organisms5

Drosophila melanogaster Drosophila Mice, Inbred Strains Mice, Mutant Strains Saccharomyces cerevisiae

Diseases89

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

Chemicals and Drugs23

Drosophila Proteins Transcription Factors Codon, Nonsense Genetic Markers Collagen Type VII Eye Proteins Membrane Proteins Ethyl Methanesulfonate Ethylnitrosourea Sarcoglycans Survival of Motor Neuron 1 Protein DNA Primers DNA RNA Splice Sites Proteins Ubiquitin-Protein Ligases SMN Complex Proteins RNA, Messenger Connexins Cyclic Nucleotide Phosphodiesterases, Type 6 Codon, Terminator Nerve Tissue Proteins RecQ Helicases

Analytical, Diagnostic and Therapeutic Techniques and Equipment25

Pedigree Crosses, Genetic Chromosome Mapping Sex Determination Analysis Models, Genetic Polymerase Chain Reaction DNA Mutational Analysis Oligonucleotide Array Sequence Analysis Gene Expression Profiling Heterozygote Detection Genetic Complementation Test Genetic Testing Sequence Analysis, DNA Electroretinography Pigmentation Genetic Association Studies Facies Inbreeding Disease Models, Animal Amino Acid Substitution Cloning, Molecular Physical Chromosome Mapping Sequence Alignment Case-Control Studies Prenatal Diagnosis

Psychiatry and Psychology5

Disorders of Sex Development Intellectual Disability Family Nuclear Family Siblings

Phenomena and Processes85

Genes, Recessive Genes, X-Linked Genes, Y-Linked X Chromosome Dosage Compensation, Genetic Sex Chromosomes Y Chromosome X Chromosome Inactivation Genetic Linkage Mutation Homozygote Chromosomes, Insect Chromosomes, Human, X Genes, Dominant Genes, Insect Consanguinity Phenotype Alleles Genes, Lethal Genomic Imprinting Heterozygote Sex Determination Processes Evolution, Molecular Base Sequence Spermatogenesis Genotype Polymorphism, Genetic Sex Characteristics Selection, Genetic Genes Biological Evolution Genetic Variation Gene Expression Regulation Species Specificity Gene Expression Mutation, Missense Lod Score Codon, Nonsense Haplotypes Exons Frameshift Mutation Genetic Markers Amino Acid Sequence Genetic Heterogeneity Exome Founder Effect Genetic Predisposition to Disease Microsatellite Repeats Point Mutation Chromosomes, Human, Pair 2 Gene Frequency Polymorphism, Single Nucleotide Polymorphism, Single-Stranded Conformational Inheritance Patterns Suppression, Genetic Chromosomes, Human, Pair 1 Sequence Deletion Pigmentation Genes, Plant Penetrance Hair Color Sex Chromosome Aberrations Chromosomes, Human, Pair 16 Gene Deletion Mutagenesis Genetic Load Inbreeding Introns Chromosomes, Human, Pair 19 Sequence Homology, Amino Acid Amino Acid Substitution RNA Splice Sites Chromosomes, Human, Pair 6 Genes, Suppressor Diploidy Polymorphism, Restriction Fragment Length Chromosomes, Human, Pair 5 Genetic Loci Chromosomes, Human, Pair 7 Recombination, Genetic Chromosomes, Human, Pair 3 Codon, Terminator Genes, Fungal Chromosomes, Human, Pair 11 Epistasis, Genetic

Anthropology, Education, Sociology and Social Phenomena3

Family Nuclear Family Siblings

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups5

Arabs Infant, Newborn Jews Asian Continental Ancestry Group Siblings

Health Care4

Family Health Genetic Testing Age of Onset Case-Control Studies

Geographicals5

Pakistan Tunisia Lebanon Syria Israel

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

Genes, Recessive Genes, X-Linked Genes, Y-Linked X Chromosome Dosage Compensation, Genetic Sex Chromosomes Y Chromosome X Chromosome Inactivation Genetic Linkage Disorders of Sex Development Pedigree Mutation Crosses, Genetic Homozygote Chromosomes, Insect Chromosomes, Human, X Chromosome Mapping Genes, Dominant Genes, Insect Consanguinity Phenotype Alleles Genes, Lethal Sex Determination Analysis Drosophila melanogaster Genomic Imprinting Drosophila Heterozygote Sex Determination Processes Evolution, Molecular Molecular Sequence Data Models, Genetic Base Sequence Infertility, Male Drosophila Proteins Spermatogenesis Genotype Polymorphism, Genetic Sex Characteristics Selection, Genetic Testis Genes Mice, Inbred Strains Polycystic Kidney, Autosomal Recessive Biological Evolution Genetic Variation Polymerase Chain Reaction Gene Expression Regulation Species Specificity Gene Expression DNA Mutational Analysis Syndrome Oligonucleotide Array Sequence Analysis Transcription Factors Gene Expression Profiling Retinitis Pigmentosa Mutation, Missense Lod Score Ichthyosis Abnormalities, Multiple Codon, Nonsense Microcephaly Epidermolysis Bullosa Dystrophica Haplotypes Exons Deafness Hypotrichosis Frameshift Mutation Genetic Markers Amino Acid Sequence Intellectual Disability Heterozygote Detection Genetic Heterogeneity Ichthyosiform Erythroderma, Congenital Exome Founder Effect Family Health Pakistan Genetic Predisposition to Disease Genetic Complementation Test Hearing Loss, Sensorineural Microsatellite Repeats Osteochondrodysplasias Cerebellar Ataxia Ichthyosis, Lamellar Point Mutation Dwarfism Genetic Diseases, Inborn Collagen Type VII Chromosomes, Human, Pair 2 Muscular Dystrophies Genetic Testing Gene Frequency Polymorphism, Single Nucleotide Bone Diseases, Developmental Epidermolysis Bullosa Polymorphism, Single-Stranded Conformational Eye Diseases, Hereditary Inheritance Patterns Osteopetrosis

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