Search Ontology:
Human Disease
congenital nonprogressive movement disorder with ataxia and eye movement abnormalities
- Term ID
- DOID:0070790
- Synonyms
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- CONMAE
- Definition
- A syndrome characterized by infantile hypotonia, delayed walking with an ataxic or unsteady gait, speech articulation difficulties, and ptosis, strabismus, or gaze palsies that has_material_basis_in heterozygous mutation in the ESRRG gene on chromosome 1q41. https://pubmed.ncbi.nlm.nih.gov/41265451/
- References
- Ontology
- Human Disease ( DOID:0070790 )
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Genes Involved
Zebrafish Models