| Metadata | |
|---|---|
| ID | DOID:0070721 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070721 Copy |
| Name | Valence-Farazi cerebellar ataxia syndrome |
| Definition | An autosomal recessive cerebellar ataxia characterized by hypotonia, delayed motor development with mildly delayed walking, ataxic gait, clumsiness, and cerebellar hypoplasia or dysplasia on brain imaging that has_material_basis_in homozygous mutation in the SKOR2 gene on chromosome 18q21. https://pubmed.ncbi.nlm.nih.gov/40890458/, https://pubmed.ncbi.nlm.nih.gov/29997391/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621386 |
| Subsets |
DO_rare_slim |
| Synonyms |
VAFCAS [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |