Chung-Jansen syndrome is a rare disorder- also called PHIP-related disorder. The syndrome is caused by a heterozygous mutation along the PHIP gene ( 6q14.1 ). Individuals with this disorder typically have developmental delay, behavioral problems, and are at risk for obesity.

What is Chung-Jansen Syndrome? Chung-Jansen syndrome is a rare disorder- also called PHIP -related disorder. The syndrome is caused by a heterozygous mutation along the PHIP gene. Individuals with this disorder typically have developmental delay, behavioral problems, and are at …

In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of PHIP (pleckstrin homology domain interacting protein, OMIM *612,870) and mainly characterized by developmental delay (DD), learning difficulties/intellectual disability (ID), behavioral abnormalities, facial dysmorphism and obesity (CHUJANS, OMIM ...

Chung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity.

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 ...

PHIP-related syndrome happens when there are changes to the PHIP gene. These changes can keep the gene from working as it should. PHIP-related syndrome is also called Chung-Jansen Syndrome.

PHIP -related syndrome is also called Chung-Jansen Syndrome. What is PHIP-related syndrome? PHIP -related syndrome happens when there are changes to the PHIP gene. These changes can keep the gene from working as it should. The PHIP gene plays a key role in cell growth.

Pathogenic variants in pleckstrin homology domain interacting protein (PHIP) are associated with Chung-Jansen syndrome characterized by developmental delay, intellectual disability, behavioral challenges, hypotonia, obesity, and dysmorphic features. We …

Chung-Jansen Syndrome is caused by a defect in the PHIP gene encoding the pleckstrin homology domain-interacting protein. The PHIP gene is located on chromosome 6 (6q14.1). Individuals normally have two chromosomes 6 with two copies of the PHIP gene.

Chung-Jansen syndrome (CHUJANS) is characterized by global developmental delay apparent from infancy, impaired intellectual development or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity.