neurodevelopmental disorder with eye movement abnormalities and ataxia

An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed wa

An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties.

Signs and symptoms

• Motor delay
• Intellectual disability
• Global developmental delay
• Ataxia
• Hypotonia
• Seizure
• Spasticity
• Nystagmus
• Opsoclonus
• Dystonia

Also known as: NEDEMA