PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
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 http://www.orphadata.org. Data version April 2024
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PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.