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Fig. 2 | Human Genomics

Fig. 2

From: Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

Fig. 2

Pathogenic convergence between de novo altered genes and the clinical phenotype. The diagram illustrates the connection between OMIM genes with a pathogenic variant or CNV change that has a functional connection with the clinical phenotype of the patient. The lines indicate a direct association between a gene alteration (CNV or pathogenic variant) and the phenotype that has also been individually reported in other patients. The phenotypic associations were detected using the VarElect program to identify functional relations between genes and phenotypes. Dup: duplication

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Human Genomics

ISSN: 1479-7364