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References OMIM Gene GeneReviews HGMD HGNC
last update : 02-12-2009
Symbol PTHS2
Location 2p16.3
Name Pitt-Hopkins 2
Corresponding gene NRXN1
Main clinical features
  • mental retardation, wide mouth and intermittent overbreathing
  • severe psychomotor delay, epilepsy, and daily bouts of diurnal hyperventilation starting in infancy, mild postnatal growth retardation, postnatal microcephaly
  • happy disposition or unmotivated laughter episodes, muscular hypotonia, severe constipation or Hirschprung disease, single palmar creases, and supernumerary digital flexion creases
  • at MRI, anomalies such as hypoplastic corpus callosum and bulging caudate nuclei
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    Type disease