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Namespace Prefixes

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Statements

Subject Item

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An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/15523657 url:https://www.ncbi.nlm.nih.gov/pubmed/20137777