Pitt-Hopkins syndrome

Epidemiology

• rare
• males & females equally affected

Pathology

• syndromic encephalopathy

Genetics

• most cases sporadic
• associated with haploinsufficiency of TCF4
• autosomal dominant

Clinical manifestations

• syndromic encephalopathy
• severe psychomotor delay
• epilepsy
• daily bouts of diurnal hyperventilation starting in infancy
• mild postnatal growth retardation
• postnatal microcephaly
• distinctive facial features

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/610954