| Metadata | |
|---|---|
| ID | DOID:0070810 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070810 Copy |
| Name | neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures |
| Definition | An autosomal recessive intellectual developmental disorder characterized by microcephaly, impaired intellectual development, seizures, brain abnormalities seen on MRI, and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the GTF3C3 gene on chromosome 2q33. https://pubmed.ncbi.nlm.nih.gov/39636576/, https://pubmed.ncbi.nlm.nih.gov/40040844/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621201 exactMatch UMLS_CUI:C6012725 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDFBS [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |