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 )

Relationships
is a type of: autosomal dominant disease syndrome