congenital fibrosis of the extraocular muscles 3A

A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in hete

A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.

Signs and symptoms

• Hypoplastic anterior commissure
• Congenital fibrosis of extraocular muscles
• Hypoplasia of the corpus callosum
• Global developmental delay
• Dysgenesis of the basal ganglia
• Peripheral axonal neuropathy
• Superior rectus atrophy
• Levator palpebrae superioris atrophy
• Ptosis
• Amblyopia