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Fig. 4 | Molecular Autism

Fig. 4

From: Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

Fig. 4

Association between deletion size and lymphatic-related conditions. On the left: deletions (in red) and SHANK3 variants (asterisks), ordered by decreasing deletion size/position. The positions of SHANK3 and CELSR1, recently implicated in lymphedema, are indicated by vertical lines. On the right: status of each patient for lymphatic-related conditions, lined up with the respective genetic status. The color black indicates the presence of the phenotype, gray indicates the absence of the phenotype, and white indicates missing information

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Molecular Autism

ISSN: 2040-2392