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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease intellectual disability
Comorbidity C0018784|sensorineural hearing loss
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PubMedID- 20301732 Donnai-barrow syndrome (dbs) is characterized by typical craniofacial features (ocular hypertelorism, enlarged fontanelle), ocular findings (high myopia, retinal detachment, progressive vision loss, and iris coloboma), sensorineural hearing loss, agenesis of the corpus callosum, intellectual disability, and congenital diaphragmatic hernia (cdh) and/or omphalocele.

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