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PedAM

Pediatric Disease Annotations & Medicines




Disease intellectual disability
Phenotype C0018784|sensorineural hearing loss
Sentences 1
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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