Term Name: | neurodevelopmental disorder with eye movement abnormalities and ataxia |
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Synonyms: | NEDEMA |
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. |
Ontology: | Human Disease [DOID:0081275] ( DOID:0081275 ) |