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Neurodevelopmental
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
Prenatal diagnostic conundrum involving a novel ATP7A duplication.
Rett/Angelman Syndrome Panel
Single Gene Analysis
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
UPD15 testing
Warburg Micro Syndrome Panel
X-Linked Non-Specific Intellectual Disability Panel
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