linear skin defects with multiple congenital anomalies 1
syndromic microphthalmia 1
syndromic microphthalmia 10
syndromic microphthalmia 11
A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. (DO)