Autosomal recessive genetic disease. Medical search. Frequent questions

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Anatomy16

Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 X Chromosome Cell Line Fibroblasts Chromosomes, Human, Pair 19 Cilia Chromosomes, Human, Pair 5 Fundus Oculi Cells, Cultured Skin Chromosomes, Human, Pair 6 Chromosomes, Human Kidney Chromosomes, Human, Pair 9

Organisms5

Mice, Mutant Strains Mice, Knockout Dogs Mice, Inbred C57BL Dependovirus

Diseases109

Genetic Diseases, Inborn Polycystic Kidney, Autosomal Recessive Syndrome Retinitis Pigmentosa Abnormalities, Multiple Microcephaly Ichthyosis Hypotrichosis Metabolism, Inborn Errors Intellectual Disability Ichthyosiform Erythroderma, Congenital Muscular Dystrophies Rare Diseases Chromosome Disorders Genetic Diseases, X-Linked Ichthyosis, Lamellar Deafness Fanconi Anemia Genetic Predisposition to Disease Dwarfism Genetic Diseases, Y-Linked Osteochondrodysplasias Hearing Loss, Sensorineural Muscular Atrophy, Spinal Cerebellar Ataxia Cystic Fibrosis Disease Models, Animal Polycystic Kidney Diseases Osteopetrosis Bone Diseases, Developmental Eye Diseases, Hereditary Albinism, Oculocutaneous Nails, Malformed Ataxia Telangiectasia Charcot-Marie-Tooth Disease Friedreich Ataxia Ectodermal Dysplasia Cutis Laxa Dysostoses Disease Cystinosis Hearing Loss Retinal Degeneration Chromosome Aberrations Amino Acid Metabolism, Inborn Errors Microphthalmos Optic Atrophy Foot Deformities, Congenital Hemochromatosis Hair Diseases Eye Abnormalities Kidney Diseases, Cystic Syndactyly Spastic Paraplegia, Hereditary Muscle Hypotonia Spinal Muscular Atrophies of Childhood Hand Deformities, Congenital Granulomatous Disease, Chronic Acidosis, Renal Tubular Arthrogryposis Facies Craniofacial Abnormalities Keratoderma, Palmoplantar Kartagener Syndrome Tooth Abnormalities Tay-Sachs Disease Ectromelia Hereditary Sensory and Autonomic Neuropathies Bardet-Biedl Syndrome Dysautonomia, Familial Phenylketonurias Cataract Caroli Disease Lipoid Proteinosis of Urbach and Wiethe Usher Syndromes Night Blindness Polydactyly Xanthomatosis, Cerebrotendinous Parkinsonian Disorders Mitochondrial Diseases Polycystic Kidney, Autosomal Dominant Retinal Dystrophies Papillon-Lefevre Disease Corneal Dystrophies, Hereditary Congenital Abnormalities Epidermolysis Bullosa Mucopolysaccharidosis I Sphingolipidoses Pseudoxanthoma Elasticum Familial Mediterranean Fever Ataxia Wolfram Syndrome Ellis-Van Creveld Syndrome Mucolipidoses Spinocerebellar Degenerations Lipid Metabolism, Inborn Errors Immunologic Deficiency Syndromes Muscular Diseases Myotonia Congenita Dog Diseases Hermanski-Pudlak Syndrome Nephritis, Hereditary Bloom Syndrome Blindness Spinocerebellar Ataxias Werner Syndrome Porphyria, Erythropoietic Limb Deformities, Congenital Muscular Dystrophy, Duchenne

Chemicals and Drugs29

Codon, Nonsense Genetic Markers Survival of Motor Neuron 1 Protein DNA Cystic Fibrosis Transmembrane Conductance Regulator Membrane Proteins Sarcoglycans RNA Splice Sites Eye Proteins Proteins DNA Primers Codon, Terminator Fanconi Anemia Complementation Group Proteins SMN Complex Proteins Dystrophin RNA, Messenger Steroid 21-Hydroxylase Ubiquitin-Protein Ligases Ethylnitrosourea Carrier Proteins RecQ Helicases DNA-Binding Proteins Cyclic Nucleotide Phosphodiesterases, Type 6 DNA, Complementary TRPP Cation Channels Nerve Tissue Proteins Iron-Binding Proteins DNA Helicases Extracellular Matrix Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment25

Pedigree DNA Mutational Analysis Chromosome Mapping Genetic Testing Heterozygote Detection Polymerase Chain Reaction Models, Genetic Prenatal Diagnosis Disease Models, Animal Sequence Analysis, DNA Genetic Therapy Electroretinography Amino Acid Substitution Facies Crosses, Genetic Sequence Alignment Genetic Association Studies Preimplantation Diagnosis Cloning, Molecular Gene Transfer Techniques Genetic Techniques Targeted Gene Repair Models, Biological Physical Chromosome Mapping Gene Targeting

Psychiatry and Psychology3

Intellectual Disability Family Siblings

Phenomena and Processes63

Genes, Recessive Consanguinity Mutation Homozygote Phenotype Genetic Linkage Mutation, Missense Codon, Nonsense Heterozygote Lod Score Base Sequence Exons Alleles Genotype Genes, Dominant Haplotypes Founder Effect Genetic Markers Exome Frameshift Mutation Amino Acid Sequence Point Mutation Genetic Predisposition to Disease Microsatellite Repeats Genetic Heterogeneity Genome, Human Polymorphism, Single Nucleotide Chromosomes, Human, Pair 2 Sequence Deletion Polymorphism, Single-Stranded Conformational Gene Frequency Chromosomes, Human, Pair 1 RNA Splice Sites Chromosomes, Human, Pair 16 Introns Inheritance Patterns Polymorphism, Genetic Chromosome Aberrations Penetrance X Chromosome Gene Deletion Codon, Terminator Genetic Variation Amino Acid Substitution Chromosomes, Human, Pair 19 Genes, Lethal Pregnancy Genetic Vectors RNA Splicing Sequence Homology, Amino Acid Chromosomes, Human, Pair 5 Protein Structure, Tertiary Polymorphism, Restriction Fragment Length Nonsense Mediated mRNA Decay Gene Expression Recombination, Genetic Alternative Splicing Trinucleotide Repeats Chromosomes, Human, Pair 6 Genes Chromosomes, Human Chromosomes, Human, Pair 9 DNA Repair

Disciplines and Occupations4

Genetics, Medical Genetic Counseling Molecular Biology Human Genome Project

Anthropology, Education, Sociology and Social Phenomena2

Family Siblings

Humanities2

Eugenics Judaism

Information Science5

Molecular Sequence Data Base Sequence Amino Acid Sequence Probability Theory Human Genome Project

Named Groups5

Infant, Newborn Jews Arabs Siblings Gypsies

Health Care4

Genetic Testing Genetic Counseling Family Health Age of Onset

Geographicals6

Pakistan Tunisia Lebanon Morocco Israel Syria

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 Humanities Information Science Named Groups Health Care Geographicals

Genes, Recessive Genetic Diseases, Inborn Consanguinity Pedigree Mutation Polycystic Kidney, Autosomal Recessive Homozygote Syndrome DNA Mutational Analysis Phenotype Chromosome Mapping Genetic Linkage Retinitis Pigmentosa Mutation, Missense Codon, Nonsense Abnormalities, Multiple Heterozygote Lod Score Molecular Sequence Data Microcephaly Base Sequence Exons Alleles Ichthyosis Genetic Testing Genotype Genes, Dominant Hypotrichosis Metabolism, Inborn Errors Intellectual Disability Haplotypes Heterozygote Detection Ichthyosiform Erythroderma, Congenital Muscular Dystrophies Founder Effect Genetic Markers Exome Frameshift Mutation Rare Diseases Genetics, Medical Chromosome Disorders Amino Acid Sequence Eugenics Pakistan Point Mutation Genetic Counseling Polymerase Chain Reaction Genetic Diseases, X-Linked Ichthyosis, Lamellar Deafness Fanconi Anemia Genetic Predisposition to Disease Models, Genetic Dwarfism Microsatellite Repeats Family Health Genetic Diseases, Y-Linked Prenatal Diagnosis Osteochondrodysplasias Hearing Loss, Sensorineural Muscular Atrophy, Spinal Cerebellar Ataxia Genetic Heterogeneity Survival of Motor Neuron 1 Protein Cystic Fibrosis Disease Models, Animal Sequence Analysis, DNA Genome, Human Polycystic Kidney Diseases DNA Osteopetrosis Cystic Fibrosis Transmembrane Conductance Regulator Infant, Newborn Age of Onset Bone Diseases, Developmental Jews Membrane Proteins Polymorphism, Single Nucleotide Eye Diseases, Hereditary Chromosomes, Human, Pair 2 Sequence Deletion Albinism, Oculocutaneous Nails, Malformed Arabs Polymorphism, Single-Stranded Conformational Genetic Therapy Ataxia Telangiectasia Gene Frequency Charcot-Marie-Tooth Disease Family Chromosomes, Human, Pair 1 Sarcoglycans RNA Splice Sites Eye Proteins Chromosomes, Human, Pair 16 Friedreich Ataxia Ectodermal Dysplasia Introns Inheritance Patterns Polymorphism, Genetic

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