| Metadata | |
|---|---|
| ID | DOID:0070474 |
| Name | childhood-onset neurodegeneration with brain atrophy |
| Definition | A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. https://pubmed.ncbi.nlm.nih.gov/28777933/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:1167373005 |
| SKOS |
exactMatch ORDO:500180 exactMatch GARD:13658 exactMatch MIM:617672 exactMatch SNOMEDCT_US_2023_03_01:1167373005 exactMatch UMLS_CUI:C5567227 exactMatch UMLS_CUI:C4540086 |
| Subsets |
DO_rare_slim |
| Synonyms |
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [EXACT] CONDBA [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |