Term Name:	Pitt-Hopkins syndrome
Synonyms:
Definition:	A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
Ontology:	Human Disease [DOID:0060488]   ( DOID:0060488 )