| Metadata | |
|---|---|
| ID | DOID:0070694 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070694 Copy |
| Name | neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities |
| Definition | A autosomal dominant intellectual developmental disorder characterized by global developmental delay with hypotonia, mildly delayed walking and speech acquisition, impaired intellectual development ranging from learning difficulties to severe cognitive impairment, behavioral abnormalities or autistic features, and congenital heart defects that has_material_basis_in heterozygous mutation in the KDM2B gene on chromosome 12q24. https://pmc.ncbi.nlm.nih.gov/articles/PMC9825659/, https://pmc.ncbi.nlm.nih.gov/articles/PMC12361114/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621474 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDCRO [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |