Chung-Jansen Syndrome (CHUJANS)

Alias:

Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome

Didod

Chujans

Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features

Developmental Delay, Intellectual Disability, Obesity, and Dysmorphism

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Chung-Jansen Syndrome, also known as phip-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, is related to syndromic intellectual disability and body mass index quantitative trait locus 11. An important gene associated with Chung-Jansen Syndrome is PHIP (Pleckstrin Homology Domain Interacting Protein). Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and macrotia

Related ID：

MALACARDS：CHN077

OMIM：617991

MESH：D009765