neurodevelopmental disorder with eye movement abnormalities and ataxia (DOID:0081275)
Alliance: disease page
Synonyms: NEDEMA
Alt IDs: OMIM:620094
Definition: 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.