Eye phenotype: microphthalmia, anophthalmia, coloboma, retinal dystrophy, optic nerve aplasia. The ocular phenotype is extremely variable, ranging from bilateral anophthalmia to normal eye development.
Brain malformations: pituitary abnormalities, Chiari malformations, arachnoid cyst, corpus callosum hypoplasia
neurocognitive features: epilepsy, neurodevelopmental delay and intellectual deficiency, autistic features.
Endocrine phenotype: growth hormone deficiency (GHD) and short stature caused by pituitary abnormalities.
Craniofacial features: mandibular hypoplasia/agenesis, ear anomalies, microstomia and macroglossia.