| Term Name: | congenital nonprogressive movement disorder with ataxia and eye movement abnormalities |
|---|---|
| Synonyms: | 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. |
| Ontology: | Human Disease [DOID:0070790] ( DOID:0070790 ) |