Kbg Syndrome (KBGS)

Alias:

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, and Skeletal Anomalies

Short Stature-Facial and Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Kbgs

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, and Skeletal Anomalies

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Kbg Syndrome, also known as macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies, is related to hypertelorism and autism spectrum disorder. An important gene associated with Kbg Syndrome is ANKRD11 (Ankyrin Repeat Domain Containing 11), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and 22q11.2 copy number variation syndrome. Affiliated tissues include bone and heart, and related phenotypes are scoliosis and short neck

Related ID：

MALACARDS：KBG001

OMIM：148050

MESH：C537015