Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 02-12-2009

Symbol	PTHS3
Location	7q35
Name	Pitt-Hopkins syndrome 3
Corresponding gene	CNTNAP2
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
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
Type	disease

Remark(s)