| Metadata | |
|---|---|
| ID | DOID:0070790 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070790 Copy |
| Name | congenital nonprogressive movement disorder with ataxia and eye movement abnormalities |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621639 |
| Subsets |
DO_rare_slim |
| Synonyms |
CONMAE [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has phenotype some Hypotonia |