neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures

Term ID

DOID:0070810

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. (2)

References

• MIM:621201
• UMLS_CUI:C6012725

Ontology

Human Disease   ( DOID:0070810 )