About   Help   FAQ
Disease Ontology Browser
neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures (DOID:0070810)
Alliance: disease page
Synonyms: NEDFBS
Alt IDs: OMIM:621201, UMLS_CUI:C6012725
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
09/01/2026
MGI 6.24 		The Jackson Laboratory