Genes, RecessiveConsanguinityPedigreePolycystic Kidney, Autosomal RecessiveHomozygoteMutationSyndromeDNA Mutational AnalysisRetinitis PigmentosaGenetic LinkagePhenotypeChromosome MappingMutation, MissenseLod ScoreAbnormalities, MultipleMicrocephalyHeterozygoteIchthyosisHypotrichosisCodon, NonsenseMolecular Sequence DataIchthyosiform Erythroderma, CongenitalExonsFrameshift MutationHaplotypesGenes, DominantIntellectual DisabilityBase SequencePakistanAllelesIchthyosis, LamellarDeafnessDwarfismGenotypeOsteochondrodysplasiasHearing Loss, SensorineuralFounder EffectCerebellar AtaxiaMuscular DystrophiesGenetic HeterogeneityHeterozygote DetectionAmino Acid SequenceGenetic MarkersOsteopetrosisMicrosatellite RepeatsFamily HealthBone Diseases, DevelopmentalExomeEye Diseases, HereditaryMetabolism, Inborn ErrorsChromosomes, Human, Pair 2Albinism, OculocutaneousNails, MalformedArabsPolymorphism, Single-Stranded ConformationalCharcot-Marie-Tooth DiseaseGenetic TestingPoint MutationChromosome DisordersChromosomes, Human, Pair 1SarcoglycansEye ProteinsFriedreich AtaxiaEctodermal DysplasiaMuscular Atrophy, SpinalCutis LaxaDysostosesAge of OnsetElectroretinographyCystinosisHearing LossRetinal DegenerationSurvival of Motor Neuron 1 ProteinAmino Acid Metabolism, Inborn ErrorsMicrophthalmosOptic AtrophyInfant, NewbornPolymerase Chain ReactionFoot Deformities, CongenitalHair DiseasesEye AbnormalitiesKidney Diseases, CysticSyndactylyGenetic Diseases, InbornSequence Analysis, DNAJewsSpastic Paraplegia, HereditaryPolycystic Kidney DiseasesMuscle HypotoniaSpinal Muscular Atrophies of ChildhoodHand Deformities, CongenitalMembrane ProteinsFanconi AnemiaFamilySequence DeletionGranulomatous Disease, ChronicTunisiaAcidosis, Renal TubularArthrogryposisChromosomes, Human, Pair 19