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Fig. 2 | BMC Genomics

Fig. 2

From: Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing

Fig. 2

Diagnostic rate of WES. (a) Patient classification among six subgroups of syndromic DD/ID. (b) Patient with diagnostic SNV/Indels in these six subgroups of syndromic DD/ID. The six colored irregular graphics in (a) and (b) represent the six subgroups of syndromic DD/ID: brown for DD/ID with hearing loss, pink for DD/ID with malformations, blue for DD/ID with epilepsy, orange for DD/ID with visual loss, yellow for DD/ID with behavioural troubles and purple for DD/ID with metabolic disorders. Overlap between the different irregular graphics shows the overlap of patients among these subgroups. (c) Hearing loss, visual loss, facial dysmorphism, and metabolic disorders were analyzed in the logistic regression model. (d) Abnormal BAEP, visual loss, facial dysmorphism, and metabolic disorders were analyzed in the logistic regression model. DD, developmental disorder; ID, intellectual disability; BAEP, brainstem auditory evoked potential; 95% CI, 95% confidence interval; OR, odds ratio

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BMC Genomics

ISSN: 1471-2164

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