ColobomaDown SyndromeSyndromeCostello SyndromePrurigoAbnormalities, MultipleMicrophthalmosChromosomes, Human, Pair 22MutationAnophthalmosPoint MutationPedigreeGenetic Diseases, InbornMutation, MissenseChoanal AtresiaDevelopmental DisabilitiesInfant, NewbornHeart Defects, CongenitalChromosome DisordersFetal DiseasesBirth WeightPregnancyEye AbnormalitiesHypertelorismChromosome AberrationsFrameshift MutationPupil DisordersPremature BirthIrisPAX2 Transcription FactorGerm-Line MutationPosterior Eye SegmentBirth RateDNA Mutational AnalysisFundus OculiInfant, Low Birth WeightMetabolic Syndrome XChoroidPhenotypeBase SequenceEyeMolecular Sequence DataCHARGE SyndromeAnterior Eye SegmentHeterozygote