|OBO ID: DOID:0111789|
|Term Name:||Frank-Ter Haar syndrome||Search Ontology:|
|Definition:||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. (2)|
|Ontology:||Human Disease (DOID:0111789)|
|is a type of:||
OTHER Frank-Ter Haar syndrome PAGES
PHENOTYPE No data available
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