Conditions / Syndrome
Pitt-Hopkins syndrome
info · Syndrome
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.
Signs and symptoms
- Hypotonia
- Gastroesophageal reflux
- Coarse facial features
- Pes planus
- Deeply set eye
- Sparse medial eyebrow
- Widely spaced teeth
- Deep philtrum
- Severe intellectual disability
- Motor stereotypy