syndromic microphthalmia 11

info · Eye

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.

Signs and symptoms

Cleft palate
Hippocampal malrotation
Agenesis of corpus callosum
Global developmental delay
Microphthalmia
Agenesis of pineal gland
Cleft upper lip

Also known as: MCOPS11