| Metadata | |
|---|---|
| ID | DOID:0070714 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070714 Copy |
| Name | neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities |
| Definition | A congenital nervous system abnormality characterized by ventriculomegaly, cerebellar hypoplasia, corpus callosum agenesis, abnormal head size, and abnormal craniofacial and skeletal defects including bilateral clubfeet that has_material_basis_in homozygous mutation in the SNAPIN gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/40930097/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621393 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDBAC [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Antenatal onset has material basis in some autosomal recessive inheritance |