| Metadata | |
|---|---|
| ID | DOID:0070816 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070816 Copy |
| Name | neurodevelopmental disorder with progressive spasticity and brain abnormalities |
| Definition | An autosomal recessive intellectual developmental disorder characterized by global developmental delay with moderate to severely impaired intellectual development, poor or absent speech, hypotonia, and delayed walking or inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the EEFSEC gene on chromosome 3q21. https://pubmed.ncbi.nlm.nih.gov/39753114/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6012700 exactMatch MIM:621102 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDPSB [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |