| Term Name: | Paul-Chao neurodevelopmental syndrome |
|---|---|
| Synonyms: | NEDPACH |
| 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. |
| Ontology: | Human Disease [DOID:0070823] ( DOID:0070823 ) |