Autosomal recessive congenital disorder. Medical search. Frequent questions

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Anatomy6

Fibroblasts Golgi Apparatus Endoplasmic Reticulum Cells, Cultured CHO Cells Chromosomes, Human, Pair 2

Diseases33

Congenital Disorders of Glycosylation Carbohydrate Metabolism, Inborn Errors Muscle Hypertonia Metabolism, Inborn Errors Abnormalities, Multiple Syndrome Hirschsprung Disease Polycystic Kidney, Autosomal Recessive Leukocyte-Adhesion Deficiency Syndrome Intellectual Disability Caroli Disease Genetic Diseases, Inborn Congenital Abnormalities Retinitis Pigmentosa Microcephaly Ichthyosis Hypotrichosis Disease Models, Animal Ichthyosiform Erythroderma, Congenital Deafness Dwarfism Ichthyosis, Lamellar Osteochondrodysplasias Cerebellar Ataxia Hearing Loss, Sensorineural Muscular Dystrophies Bone Diseases, Developmental Chromosome Disorders Osteopetrosis Eye Diseases, Hereditary Nails, Malformed Albinism, Oculocutaneous Charcot-Marie-Tooth Disease

Chemicals and Drugs16

Phosphotransferases (Phosphomutases)Mannosyltransferases Mannose-6-Phosphate Isomerase Transferrin Dolichol Polysaccharides Fucose Oligosaccharides Mannose Adaptor Proteins, Vesicular Transport Membrane Proteins Glucosyltransferases Codon, Nonsense Glycoproteins Protein Isoforms Genetic Markers

Analytical, Diagnostic and Therapeutic Techniques and Equipment11

Pedigree DNA Mutational Analysis Isoelectric Focusing Fatal Outcome Chromosome Mapping Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization Sequence Analysis, DNA Disease Models, Animal Heterozygote Detection Chromatography, High Pressure Liquid Genetic Testing

Psychiatry and Psychology11

Intellectual Disability Bipolar Disorder Mental Disorders Anxiety Disorders Mood Disorders Depressive Disorder, Major Attention Deficit Disorder with Hyperactivity Depressive Disorder Obsessive-Compulsive Disorder Stress Disorders, Post-Traumatic Autistic Disorder

Phenomena and Processes29

Genes, Recessive Glycosylation Consanguinity Mutation Homozygote Protein Modification, Translational Phenotype Exome Mutation, Missense Amino Acid Sequence Base Sequence Genetic Linkage Lod Score Heterozygote Codon, Nonsense Exons Haplotypes Genes, Dominant Frameshift Mutation Alleles Genotype Carbohydrate Sequence Genetic Heterogeneity Founder Effect Genetic Markers Microsatellite Repeats Chromosomes, Human, Pair 2 Point Mutation Polymorphism, Single-Stranded Conformational

Information Science6

Molecular Sequence Data Fatal Outcome Amino Acid Sequence Base Sequence Diagnostic and Statistical Manual of Mental Disorders Carbohydrate Sequence

Named Groups2

Infant, Newborn Arabs

Health Care4

Fatal Outcome Family Health Age of Onset Genetic Testing

Geographicals1

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

Congenital Disorders of Glycosylation Carbohydrate Metabolism, Inborn Errors Genes, Recessive Phosphotransferases (Phosphomutases)Glycosylation Mannosyltransferases Mannose-6-Phosphate Isomerase Consanguinity Pedigree Mutation Muscle Hypertonia Metabolism, Inborn Errors Abnormalities, Multiple Transferrin Syndrome Hirschsprung Disease Dolichol Homozygote Protein Modification, Translational DNA Mutational Analysis Polysaccharides Phenotype Exome Isoelectric Focusing Polycystic Kidney, Autosomal Recessive Mutation, Missense Molecular Sequence Data Fucose Leukocyte-Adhesion Deficiency Syndrome Intellectual Disability Caroli Disease Genetic Diseases, Inborn Infant, Newborn Fibroblasts Oligosaccharides Bipolar Disorder Fatal Outcome Amino Acid Sequence Congenital Abnormalities Base Sequence Golgi Apparatus Mannose Genetic Linkage Adaptor Proteins, Vesicular Transport Retinitis Pigmentosa Chromosome Mapping Membrane Proteins Mental Disorders Lod Score Glucosyltransferases Microcephaly Anxiety Disorders Mood Disorders Heterozygote Ichthyosis Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization Hypotrichosis Codon, Nonsense Sequence Analysis, DNA Exons Disease Models, Animal Ichthyosiform Erythroderma, Congenital Diagnostic and Statistical Manual of Mental Disorders Haplotypes Genes, Dominant Frameshift Mutation Glycoproteins Endoplasmic Reticulum Alleles Genotype Cells, Cultured Carbohydrate Sequence Protein Isoforms Pakistan Deafness Dwarfism Ichthyosis, Lamellar Osteochondrodysplasias CHO Cells Cerebellar Ataxia Genetic Heterogeneity Hearing Loss, Sensorineural Depressive Disorder, Major Founder Effect Heterozygote Detection Muscular Dystrophies Family Health Genetic Markers Attention Deficit Disorder with Hyperactivity Age of Onset Bone Diseases, Developmental Chromatography, High Pressure Liquid Microsatellite Repeats Chromosome Disorders Depressive Disorder Genetic Testing Osteopetrosis Chromosomes, Human, Pair 2 Eye Diseases, Hereditary Point Mutation

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