SyndromeGenes, DominantPolycystic Kidney, Autosomal DominantPedigreeMutationDown SyndromeAbnormalities, MultipleGenetic LinkageMetabolic Syndrome XPhenotypeDNA Mutational AnalysisLod ScoreMutation, MissenseTRPP Cation ChannelsRetinitis PigmentosaTurner SyndromeChromosome MappingNephrotic SyndromeHand Deformities, CongenitalOptic Atrophy, Autosomal DominantMolecular Sequence DataSjogren's SyndromeGenes, RecessiveHeterozygoteEye AbnormalitiesIntellectual DisabilityFamily HealthEctodermal DysplasiaPolycystic Kidney DiseasesMyelodysplastic SyndromesCraniofacial AbnormalitiesCataractBase SequenceChromosome DisordersAge of OnsetCADASILPrader-Willi SyndromeWerner SyndromeHaplotypesLong QT SyndromeGenotypeCushing SyndromeParaneoplastic SyndromesTourette SyndromeBloom SyndromeGenetic HeterogeneityGenetic TestingGenetic MarkersAcute Coronary SyndromePenetranceCraniofacial DysostosisOphthalmoplegiaSpinocerebellar DegenerationsMouth AbnormalitiesCerebellar AtaxiaGenetic Predisposition to DiseaseAllelesExonsPoint MutationConsanguinityMarfan SyndromeCompartment SyndromesKlinefelter SyndromeInfant, NewbornGardner SyndromeDementia, Multi-InfarctPolymerase Chain ReactionArthrogryposisRisk FactorsDisease Models, AnimalFrameshift MutationFoot Deformities, CongenitalChromosomes, Human, Pair 2Short Rib-Polydactyly SyndromeSpastic Paraplegia, HereditaryJob SyndromeEye ProteinsHearing Loss, SensorineuralNails, MalformedMicrocephalyBrugada SyndromePancoast SyndromeTic DisordersMicrosatellite RepeatsAmino Acid SequenceHomozygoteGerm-Line MutationKidneyCystsGrowth DisordersMagnetic Resonance ImagingFanconi SyndromeChromosomes, Human, Pair 16SyndactylySequence Analysis, DNAChromosomes, Human, Pair 19Codon, Nonsensegamma-CrystallinsPolymorphism, Single-Stranded ConformationalChromosomes, Human, Pair 1