neurodevelopmental disorder with eye movement abnormalities and ataxia

Term ID

DOID:0081275

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. https://pubmed.ncbi.nlm.nih.gov/36206744/

References

• OMIM:620094

Ontology

Human Disease   ( DOID:0081275 )