| Term Name: | neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures |
|---|---|
| Synonyms: | NEDFBS |
| 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. |
| Ontology: | Human Disease [DOID:0070810] ( DOID:0070810 ) |