English

Generated Narrative: Observation mii-exa-molgen-diagnostische-implikation-2

Related artifact: No display for RelatedArtifact (type: citation; citation: Richards et al., Genet Med. 2015; 17:405-24; url: https://doi.org/10.1038/gim.2015.30)

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Medical record number (use: usual, ))

effective: 2022-03-16

performer: Practitioner Dr. Daniel Schmidt(official)

derivedFrom: Observation Genetic variant assessment

component

code: Conclusion Text

value: Nachweis einer pathogenen Variante im NIPBL-Gen in heterozygoter Form.

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code: Genetic variation clinical significance [Imp]

value: Pathogenic

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code: Condition Inheritance

value: Autosomal dominant inheritance

component

code: Associated phenotype

value: De Lange syndrome (disorder)