MicrocephalyAbnormalities, MultipleIntellectual DisabilitySyndromeFaciesConsanguinityGenes, RecessiveLissencephalyNijmegen Breakage SyndromeMicrognathismDwarfismPedigreeDevelopmental DisabilitiesSensitivity and SpecificityPhenylketonuria, MaternalGrowth DisordersDiagnostic ErrorsAgenesis of Corpus CallosumDiagnostic Tests, RoutinePhenotypeOptic AtrophyNerve Tissue ProteinsKaryotypingCentrosomeInfant, NewbornChromosome DisordersDiagnostic Techniques and ProceduresExomeSegmental Duplications, GenomicCri-du-Chat SyndromeMandibulofacial DysostosisMutationDiagnostic ImagingHeadChromosome BreakageCentriolesCraniofacial Abnormalities