Human genes for Pitt-Hopkins syndrome
Pitt-Hopkins syndrome [DOID:0060488]
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.
Synonyms: Pitt-Hopkins syndrome, DOID:0060488, PittHopkins syndrome, Pitt-Hopkins disease, Pitt-Hopkins disorder ...