| Metadata | |
|---|---|
| ID | DOID:0081275 |
| PURL | http://purl.obolibrary.org/obo/DOID_0081275 Copy |
| Name | neurodevelopmental disorder with eye movement abnormalities and ataxia |
| 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/ |
| Xrefs | |
| Synonyms |
NEDEMA [EXACT] |
| Parent Relationships |