About   Help   FAQ
Disease Ontology Browser
Paul-Chao neurodevelopmental syndrome (DOID:0070823)
Alliance: disease page
Synonyms: NEDPACH
Alt IDs: OMIM:621122, UMLS_CUI:C6012758
Definition: An autosomal dominant intellectual developmental disorder characterized by global developmental delay, delayed walking, variably impaired intellectual development, and poor or absent speech that has_material_basis_in heterozygous mutation in the PPFIA3 gene on chromosome 19q13.

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