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Table 3 Comparison between phenotype classes in Guangxi Maternal Hospital

From: Genome analysis and knowledge-driven variant interpretation with TGex

Phenotype classCommon associated keywordsTotal casesResolved cases% Resolved
Growth RetardationShort stature1076661.7
Developmental DelayMental retardation, Delayed speech, Motor delay17410158.0
EpilepsySeizures, Convulsion, Spasm19112163.4
Genitalia symptomsScrotum, Micropenis, Hypogonadism, Hypospadia1313022.9
  1. To compare between phenotype classes, highly abundant keywords in all of the cases of the account were selected. Those keywords were grouped into four main classes of phenotypes, and the statistics for all of the cases of each phenotype class were calculated (with minor case overlap between classes)