About   Help   FAQ
Disease Ontology Browser
congenital nonprogressive movement disorder with ataxia and eye movement abnormalities (DOID:0070790)
Alliance: disease page
Synonyms: CONMAE
Alt IDs: OMIM:621639
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
07/14/2026
MGI 6.24 		The Jackson Laboratory