Clinical features of UBR5-associated neurodevelopmental syndrome
Patients with UBR5-related neurodevelopmental syndrome are often children that show delays in achieving developmental milestones at the expected age. This includes but is not limited to delays in:
• Motor development such as baby rolling, propped and independent sitting, standing and walking.
• Language development
• Intellectual and cognitive development such as IQ, language and speech.
Some patients also present epilepsy, autistic traits, movement disorders and ADHD. Rarely, some patients also showed genital anomalies, cardiac anomalies, microcephaly, short stature and exhibited diverse facial abnormalities (wide eyebrows or synophrys, high forehead, hypertelorism, anteversion of the nares, dental anomalies, etc.)
UBR5