ParaplegiaGenes, RecessiveSpastic Paraplegia, HereditaryGenes, DominantPedigreeConsanguinityPolycystic Kidney, Autosomal DominantMutationGenetic LinkageLod ScoreDNA Mutational AnalysisRetinitis PigmentosaSyndromeMutation, MissensePhenotypeChromosome MappingPolycystic Kidney, Autosomal RecessiveHomozygoteSpinal Cord IschemiaHeterozygoteMolecular Sequence DataAbnormalities, MultipleHaplotypesTRPP Cation ChannelsCerebellar AtaxiaExonsGenetic HeterogeneityCodon, NonsenseBase SequenceChromosomes, Human, Pair 2Genetic MarkersFrameshift MutationAge of OnsetFamily HealthGenotypePolycystic Kidney DiseasesAortic Aneurysm, ThoracicSpinal Cord InjuriesHypotrichosisTuberculosis, SpinalMicrocephalyCataractParaparesisAllelesSpinocerebellar DegenerationsOptic Atrophy, Autosomal DominantHearing Loss, SensorineuralQuadriplegiaMicrosatellite RepeatsIchthyosisIntellectual DisabilityEye ProteinsPoint MutationDeafnessNails, MalformedExomeChromosome DisordersAmino Acid SequencePolymorphism, Single-Stranded ConformationalEye Diseases, HereditaryHand Deformities, CongenitalChromosomes, Human, Pair 1Genetic TestingFoot Deformities, CongenitalSpinal Cord CompressionOsteochondrodysplasiasPenetranceElectroretinographyEctodermal DysplasiaCharcot-Marie-Tooth DiseaseFounder EffectBone Diseases, DevelopmentalChromosomes, Human, Pair 19Polymerase Chain ReactionMuscular DystrophiesIchthyosiform Erythroderma, CongenitalSequence Analysis, DNAChromosomes, Human, Pair 16SyndactylyMuscle SpasticityMembrane ProteinsOptic AtrophyOsteopetrosisCADASILLaminectomyDwarfismKeratoderma, PalmoplantarHeterozygote DetectionHereditary Sensory and Motor NeuropathyRetinal DegenerationHysteriaPakistanWheelchairsDisease Models, AnimalSpinal CordSpinocerebellar AtaxiasFamilyGenetic Diseases, InbornGenetic Predisposition to DiseaseIchthyosis, Lamellar