KBG syndrome

Genetics

• associated with defects in ANKRD11

Clinical manifestations

• macrodontia of the upper central incisors
• distinctive craniofacial findings
• short stature
• skeletal anomalies
• global developmental delay
• seizures
• intellectual disability

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/148050