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Article

Next generation phenotyping with quantitative narration for DEGCAGS syndrome.

American journal of medical genetics. Part A - 1 Apr 2023

Freeman Rebecca, Noronha Adriana, Woods Jeremy

Abstract excerpt

The diagnosis of rare Mendelian disorders usually relies upon the interpretation of prose and is complicated by a lack of objective, reproducible phenotypic data. To address this limitation, we developed a next generation phenotyping workflow to phenotypically characterize developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities (DEGCAGS). We identified 15 people...

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Identifiers

PMID: 36607994
DOI: 10.1002/ajmg.a.63111

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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