Term Name: neurodevelopmental disorder with eye movement abnormalities and ataxia
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 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder