Werner SyndromeRecQ HelicasesExodeoxyribonucleasesConsanguinityGenes, RecessiveSyndromeLipoid Proteinosis of Urbach and WiethePedigreeMutationAbnormalities, MultiplePapillon-Lefevre DiseaseHomozygoteAfibrinogenemiaDNA HelicasesMutation, MissenseDNA Mutational AnalysisCodon, NonsensePhenotypeBloom SyndromeMolecular Sequence DataChromosomes, Human, Pair 1Rothmund-Thomson SyndromeBase SequenceInfant, NewbornGenotypeAmino Acid SequenceExonucleasesCystinosisBardet-Biedl SyndromeMicrocephalyAging, PrematureHeterozygoteOsteochondrodysplasias4-Nitroquinoline-1-oxideHypotrichosisIntellectual DisabilityMetabolism, Inborn ErrorsAlbinism, OculocutaneousChromosome MappingGenetic LinkagePorphyria, ErythropoieticExonsHypopigmentationLod ScoreProgeriaChediak-Higashi SyndromeEllis-Van Creveld SyndromeDNAFanconi AnemiaFaciesFrameshift MutationRare DiseasesAlstrom SyndromeHaplotypesHermanski-Pudlak SyndromeFibroblastsLipid Metabolism, Inborn ErrorsCraniofacial AbnormalitiesAcrodermatitisDNA RepairAdenosine TriphosphatasesDNA DamageFamily HealthCockayne SyndromeAllelesDwarfismTelomereHeterozygote DetectionDNA ReplicationPolycystic Kidney, Autosomal RecessiveGenetic MarkersAmino Acid Metabolism, Inborn ErrorsFatal OutcomeImmunologic Deficiency SyndromesRNA Splice SitesPoint Mutation1-Acylglycerol-3-Phosphate O-AcyltransferaseMicrosatellite RepeatsFounder EffectSurvival of Motor Neuron 1 ProteinChromosomes, Human, Pair 8Retinitis PigmentosaHearing Loss, SensorineuralGenetic HeterogeneityAdrenal InsufficiencyUsher SyndromesXeroderma PigmentosumDNA-Binding ProteinsAtaxia TelangiectasiaGenetic TestingKeratoderma, PalmoplantarReceptor, Melanocortin, Type 2SitosterolsReplication Protein ATelomeric Repeat Binding Protein 2HeLa CellsMuscular Atrophy, SpinalHepatolenticular DegenerationUrea Cycle Disorders, InbornNails, Malformed