Autosomal recessive inborn. Medical search. Frequent questions

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Anatomy23

Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 5 Fundus Oculi X Chromosome Chromosomes, Human, Pair 6 Fibroblasts Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 7 Skin Chromosomes, Human, Pair 4 Hair Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 8 Cilia Photoreceptor Cells, Vertebrate Kidney Cell Line Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 10

Organisms1

Mice, Mutant Strains

Diseases128

Polycystic Kidney, Autosomal Recessive Syndrome Retinitis Pigmentosa Abnormalities, Multiple Microcephaly Ichthyosis Hypotrichosis Ichthyosiform Erythroderma, Congenital Intellectual Disability Ichthyosis, Lamellar Deafness Dwarfism Osteochondrodysplasias Hearing Loss, Sensorineural Cerebellar Ataxia Muscular Dystrophies Osteopetrosis Bone Diseases, Developmental Eye Diseases, Hereditary Metabolism, Inborn Errors Albinism, Oculocutaneous Nails, Malformed Charcot-Marie-Tooth Disease Chromosome Disorders Friedreich Ataxia Ectodermal Dysplasia Muscular Atrophy, Spinal Cutis Laxa Dysostoses Cystinosis Hearing Loss Retinal Degeneration Amino Acid Metabolism, Inborn Errors Microphthalmos Optic Atrophy Foot Deformities, Congenital Hair Diseases Eye Abnormalities Kidney Diseases, Cystic Syndactyly Genetic Diseases, Inborn Spastic Paraplegia, Hereditary Polycystic Kidney Diseases Muscle Hypotonia Spinal Muscular Atrophies of Childhood Hand Deformities, Congenital Fanconi Anemia Granulomatous Disease, Chronic Acidosis, Renal Tubular Arthrogryposis Facies Craniofacial Abnormalities Keratoderma, Palmoplantar Tooth Abnormalities Ectromelia Hereditary Sensory and Autonomic Neuropathies Bardet-Biedl Syndrome Ataxia Telangiectasia Cataract Genetic Predisposition to Disease Caroli Disease Lipoid Proteinosis of Urbach and Wiethe Usher Syndromes Night Blindness Polydactyly Xanthomatosis, Cerebrotendinous Parkinsonian Disorders Retinal Dystrophies Disease Models, Animal Papillon-Lefevre Disease Corneal Dystrophies, Hereditary Epidermolysis Bullosa 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 Rothmund-Thomson Syndrome Vitelliform Macular Dystrophy Muscular Dystrophies, Limb-Girdle Rare Diseases Retinal Diseases Mitochondrial Encephalomyopathies Genetic Diseases, X-Linked Leber Congenital Amaurosis Chromosome Aberrations Dermatitis, Exfoliative Alopecia Encephalocele Amelogenesis Imperfecta Gitelman Syndrome alpha-Mannosidosis Epidermolysis Bullosa Dystrophica Gait Ataxia Agenesis of Corpus Callosum Hereditary Sensory and Motor Neuropathy Ciliary Motility Disorders Osteosclerosis Coloboma Epilepsies, Myoclonic Hepatolenticular Degeneration Hyperostosis, Cortical, Congenital Afibrinogenemia Hypertelorism Nephrocalcinosis Color Vision Defects Chediak-Higashi Syndrome Alkaptonuria Hypopigmentation Parkinson Disease Lafora Disease Urea Cycle Disorders, Inborn Neuronal Ceroid-Lipofuscinoses

Chemicals and Drugs24

Codon, Nonsense Genetic Markers Sarcoglycans Eye Proteins Survival of Motor Neuron 1 Protein Membrane Proteins SMN Complex Proteins Ubiquitin-Protein Ligases RNA Splice Sites DNA Primers RecQ Helicases Cyclic Nucleotide Phosphodiesterases, Type 6 Proteins Nerve Tissue Proteins DNA Iron-Binding Proteins Protein Tyrosine Phosphatases, Non-Receptor Survival of Motor Neuron 2 Protein Codon, Terminator Connexins Carrier Proteins RNA, Messenger Solute Carrier Family 12, Member 3 Fanconi Anemia Complementation Group Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment19

Pedigree DNA Mutational Analysis Chromosome Mapping Heterozygote Detection Genetic Testing Electroretinography Polymerase Chain Reaction Sequence Analysis, DNA Facies Crosses, Genetic Disease Models, Animal Prenatal Diagnosis Physical Chromosome Mapping Models, Genetic Genetic Complementation Test Amino Acid Substitution Sequence Alignment Fatal Outcome Genetic Association Studies

Psychiatry and Psychology4

Intellectual Disability Family Siblings Nuclear Family

Phenomena and Processes57

Genes, Recessive Consanguinity Homozygote Mutation Genetic Linkage Phenotype Mutation, Missense Lod Score Heterozygote Codon, Nonsense Exons Frameshift Mutation Haplotypes Genes, Dominant Base Sequence Alleles Genotype Founder Effect Genetic Heterogeneity Amino Acid Sequence Genetic Markers Microsatellite Repeats Exome Chromosomes, Human, Pair 2 Polymorphism, Single-Stranded Conformational Point Mutation Chromosomes, Human, Pair 1 Sequence Deletion Chromosomes, Human, Pair 19 Genes, Lethal Chromosomes, Human, Pair 16 Genetic Predisposition to Disease Polymorphism, Genetic Chromosomes, Human, Pair 5 RNA Splice Sites Introns Gene Frequency X Chromosome Inheritance Patterns Polymorphism, Single Nucleotide Chromosomes, Human, Pair 6 Gene Deletion Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 11 Amino Acid Substitution Sequence Homology, Amino Acid Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 4 Codon, Terminator Chromosome Aberrations Chromosomes, Human, Pair 3 Penetrance Chromosomes, Human, Pair 8 Hair Color Genetic Loci Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 10

Disciplines and Occupations1

Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena3

Family Siblings Nuclear Family

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Fatal Outcome

Named Groups6

Arabs Infant, Newborn Jews Siblings Gypsies Asian Continental Ancestry Group

Health Care5

Family Health Genetic Testing Age of Onset Genetic Counseling Fatal Outcome

Geographicals11

Pakistan Tunisia Lebanon Morocco Israel Syria United Arab Emirates Turkey Persia Africa, Northern Iraq

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

Genes, Recessive Consanguinity Pedigree Polycystic Kidney, Autosomal Recessive Homozygote Mutation Syndrome DNA Mutational Analysis Retinitis Pigmentosa Genetic Linkage Phenotype Chromosome Mapping Mutation, Missense Lod Score Abnormalities, Multiple Microcephaly Heterozygote Ichthyosis Hypotrichosis Codon, Nonsense Molecular Sequence Data Ichthyosiform Erythroderma, Congenital Exons Frameshift Mutation Haplotypes Genes, Dominant Intellectual Disability Base Sequence Pakistan Alleles Ichthyosis, Lamellar Deafness Dwarfism Genotype Osteochondrodysplasias Hearing Loss, Sensorineural Founder Effect Cerebellar Ataxia Muscular Dystrophies Genetic Heterogeneity Heterozygote Detection Amino Acid Sequence Genetic Markers Osteopetrosis Microsatellite Repeats Family Health Bone Diseases, Developmental Exome Eye Diseases, Hereditary Metabolism, Inborn Errors Chromosomes, Human, Pair 2 Albinism, Oculocutaneous Nails, Malformed Arabs Polymorphism, Single-Stranded Conformational Charcot-Marie-Tooth Disease Genetic Testing Point Mutation Chromosome Disorders Chromosomes, Human, Pair 1 Sarcoglycans Eye Proteins Friedreich Ataxia Ectodermal Dysplasia Muscular Atrophy, Spinal Cutis Laxa Dysostoses Age of Onset Electroretinography Cystinosis Hearing Loss Retinal Degeneration Survival of Motor Neuron 1 Protein Amino Acid Metabolism, Inborn Errors Microphthalmos Optic Atrophy Infant, Newborn Polymerase Chain Reaction Foot Deformities, Congenital Hair Diseases Eye Abnormalities Kidney Diseases, Cystic Syndactyly Genetic Diseases, Inborn Sequence Analysis, DNA Jews Spastic Paraplegia, Hereditary Polycystic Kidney Diseases Muscle Hypotonia Spinal Muscular Atrophies of Childhood Hand Deformities, Congenital Membrane Proteins Fanconi Anemia Family Sequence Deletion Granulomatous Disease, Chronic Tunisia Acidosis, Renal Tubular Arthrogryposis Chromosomes, Human, Pair 19

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