Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Disease ID: disease_node_16469
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| Dbxref | MIM:620094 |
|---|---|
| Subclassof | DOID_0060307 |
| Data Source | DOID |
| Synonyms | NEDEMA |
| Doid Label | neurodevelopmental disorder with eye movement abnormalities and ataxia |
| Doid Description | An autosomal domit 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. |
| Disease Node Id | disease_node_16469 |
| Doid Id | DOID_0081275 |
| Label | Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Intellectual Developmental Disorder(ID:disease_node_16455) (Disease)