PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

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Synonyms: Chung-Jansen syndrome | DIDOD

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability overweight or obesity behavioral abnormalities (including hyperactivity aggressive behavior anxiety mood disorder or autistic features) and facial dysmorphism (such as high forehead full eyebrows and/or synophrys upturned nose and fleshy ears among others). Additional reported manifestations are hypotonia ocular anomalies anomalies of the fingers and toes joint hypermobility or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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