Human genes for Frank-Ter Haar syndrome
Frank-Ter Haar syndrome [DOID:0111789]
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.
Synonyms: Frank-Ter Haar syndrome, DOID:0111789, FrankTer Haar syndrome, Frank-Ter Haar disease, Frank-Ter Haar disorder ...