ColobomaDown SyndromeSyndromeCostello SyndromeGenes, DominantAbnormalities, MultiplePrurigoPedigreeMicrophthalmosChromosomes, Human, Pair 22Polycystic Kidney, Autosomal DominantAnophthalmosGenetic Diseases, InbornChromosome DisordersMutationChoanal AtresiaDevelopmental DisabilitiesInfant, NewbornHeart Defects, CongenitalFetal DiseasesBirth WeightEye AbnormalitiesPregnancyHypertelorismChromosome AberrationsPupil DisordersGenetic LinkageDNA Mutational AnalysisPhenotypePremature BirthIrisPAX2 Transcription FactorLod ScoreTRPP Cation ChannelsFundus OculiPosterior Eye SegmentRetinitis PigmentosaBirth RateCataractMutation, MissenseInfant, Low Birth WeightMetabolic Syndrome XChoroidOptic Atrophy, Autosomal DominantCHARGE SyndromeMolecular Sequence DataChoroid DiseasesEyeChromosome MappingBlepharoptosisAnterior Eye SegmentEye Proteins