DISEASES

Disease-gene associations mined from literature

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 ...