| Metadata | |
|---|---|
| ID | DOID:0070745 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070745 Copy |
| Name | early-onset progressive encephalopathy with brain atrophy and spasticity |
| Definition | An autosomal recessive intellectual developmental disorder characterized by microcephaly, global developmental delay, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus that has_material_basis_in homozygous or compound heterozygous mutation in the TRAPPC12 gene on chromosome 2p25. https://pubmed.ncbi.nlm.nih.gov/28777934/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1169356004 |
| SKOS |
exactMatch MIM:617669 exactMatch UMLS_CUI:C5567229 exactMatch ORDO:500144 broadMatch ICD10CM:Q07.8 |
| Subsets |
DO_rare_slim |
| Synonyms |
PEBAS [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |