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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

Fig. 3

A Heatmap depicts common facial features for patients carrying NFIX deleterious variants by using the specific Human Phenotype Ontology (HPO) annotation (rows), which were retrieved from published studies and our cohort (columns). Phenotypic enrichment is shown according to the features’ recurrence labeled by the increment of color degree. The items with no features available were labeled white. B Is it possible to observe the numbers of patients presenting the specific feature (N°) and the percentage of the feature (%)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172