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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder