Paul-Chao neurodevelopmental syndrome

Term ID

DOID:0070823

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. https://pubmed.ncbi.nlm.nih.gov/38181735/

References

• MIM:621122
• UMLS_CUI:C6012758

Ontology

Human Disease   ( DOID:0070823 )