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 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder