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Human Disease

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
Ontology
Human Disease   ( DOID:0081275 )
Relationships
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Genes Involved
Zebrafish Models