Diagnosis of autosomal dominant microcephaly. Medical search. Frequent questions

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Anatomy16

Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 4 Brain Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 6 Centrosome Face Chromosomes, Human, Pair 5 Head Chromosomes, Human, Pair 19 Facial Bones Skull Chromosomes, Human, 1-3 Centrioles

Diseases41

Microcephaly Polycystic Kidney, Autosomal Dominant Abnormalities, Multiple Syndrome Intellectual Disability Facies Retinitis Pigmentosa Optic Atrophy, Autosomal Dominant Chromosome Disorders Lissencephaly Nijmegen Breakage Syndrome Foot Deformities, Congenital Dwarfism Mandibulofacial Dysostosis Syndactyly Micrognathism Polycystic Kidney Diseases Cataract CADASIL Growth Disorders Optic Atrophy Phenylketonuria, Maternal Agenesis of Corpus Callosum Craniofacial Abnormalities Spinocerebellar Degenerations Cerebellar Ataxia Microphthalmos Dementia, Multi-Infarct Cysts Chromosome Aberrations Chromosome Deletion Spastic Paraplegia, Hereditary Hand Deformities, Congenital Cri-du-Chat Syndrome Olivopontocerebellar Atrophies Fetal Diseases Chromosome Breakage Genetic Predisposition to Disease Hearing Loss, Sensorineural Nails, Malformed Congenital Abnormalities

Chemicals and Drugs6

TRPP Cation Channels Genetic Markers Nerve Tissue Proteins Codon, Nonsense Eye Proteins gamma-Crystallins

Analytical, Diagnostic and Therapeutic Techniques and Equipment17

Pedigree Facies DNA Mutational Analysis Chromosome Mapping Prenatal Diagnosis Delayed Diagnosis Early Diagnosis Magnetic Resonance Imaging Karyotyping Sensitivity and Specificity Polymerase Chain Reaction Sequence Analysis, DNA Retrospective Studies Genetic Testing Diagnosis In Situ Hybridization, Fluorescence Fatal Outcome

Psychiatry and Psychology4

Intellectual Disability Developmental Disabilities Dementia, Multi-Infarct Family

Phenomena and Processes39

Genes, Dominant Mutation Genetic Linkage Consanguinity Genes, Recessive Lod Score Phenotype Mutation, Missense Chromosomes, Human, Pair 2 Genetic Heterogeneity Heterozygote Frameshift Mutation Chromosomes, Human, Pair 1 Haplotypes Genetic Markers Exome Chromosomes, Human, Pair 16 Base Sequence Codon, Nonsense Homozygote Exons Genotype Chromosomes, Human, Pair 4 Penetrance Sensitivity and Specificity Pregnancy Haploinsufficiency Chromosomes, Human, Pair 7 Chromosome Aberrations Chromosomes, Human, Pair 6 Chromosome Deletion Chromosomes, Human, Pair 5 Segmental Duplications, Genomic Microsatellite Repeats Chromosome Breakage Chromosomes, Human, Pair 19 Chromosomes, Human, 1-3 Genetic Predisposition to Disease Point Mutation

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Molecular Sequence Data Base Sequence Fatal Outcome

Named Groups1

Infant, Newborn

Health Care6

Age of Onset Family Health Sensitivity and Specificity Retrospective Studies Genetic Testing Fatal Outcome

Anatomy 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

Microcephaly Genes, Dominant Polycystic Kidney, Autosomal Dominant Pedigree Abnormalities, Multiple Syndrome Intellectual Disability Mutation Genetic Linkage Consanguinity Genes, Recessive Facies Lod Score Phenotype DNA Mutational Analysis TRPP Cation Channels Retinitis Pigmentosa Mutation, Missense Chromosome Mapping Optic Atrophy, Autosomal Dominant Chromosome Disorders Lissencephaly Nijmegen Breakage Syndrome Foot Deformities, Congenital Chromosomes, Human, Pair 2 Genetic Heterogeneity Molecular Sequence Data Prenatal Diagnosis Heterozygote Dwarfism Frameshift Mutation Mandibulofacial Dysostosis Chromosomes, Human, Pair 1 Syndactyly Haplotypes Infant, Newborn Genetic Markers Micrognathism Exome Polycystic Kidney Diseases Nerve Tissue Proteins Cataract CADASIL Chromosomes, Human, Pair 16 Delayed Diagnosis Growth Disorders Optic Atrophy Base Sequence Developmental Disabilities Codon, Nonsense Homozygote Early Diagnosis Magnetic Resonance Imaging Exons Age of Onset Karyotyping Genotype Phenylketonuria, Maternal Agenesis of Corpus Callosum Chromosomes, Human, Pair 4 Craniofacial Abnormalities Penetrance Family Health Spinocerebellar Degenerations Brain Sensitivity and Specificity Polymerase Chain Reaction Cerebellar Ataxia Microphthalmos Dementia, Multi-Infarct Pregnancy Haploinsufficiency Family Cysts Chromosomes, Human, Pair 7 Chromosome Aberrations Chromosomes, Human, Pair 6 Centrosome Face Eye Proteins Chromosome Deletion Chromosomes, Human, Pair 5 Spastic Paraplegia, Hereditary Hand Deformities, Congenital Segmental Duplications, Genomic Cri-du-Chat Syndrome Sequence Analysis, DNA Retrospective Studies Olivopontocerebellar Atrophies Fetal Diseases Genetic Testing Head Microsatellite Repeats Diagnosis Chromosome Breakage Chromosomes, Human, Pair 19 Facial Bones In Situ Hybridization, Fluorescence Skull Chromosomes, Human, 1-3

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