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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
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 610954
References
UniProt :accession P15884