Monoallelic variants in the UBR5gene cause a neurodevelopmental syndrome.
Most individuals with UBR5variants exhibit developmental delay. These include:
• Global developmental delay (93%)
• Autistic features (62%)
• Intellectual disability (56%)
Other clinical characteristics include:
• Epilepsy (27%)
• Movement disorder (23%)
• Microcephaly (18%)
• Genital anomalies (16%)
• Cardiac anomalies (12%)
• Short stature (9%)
• Various dysmorphism, most of them, were only seen in one proband (56%):
o 5/14 had hands and feet dysmorphisms, including clinodactyly, long fingers and toes, and one proband with a left postaxial appendage of the upper limb and postaxial polydactyly bilaterally of the lower limb. Wide eyebrows or synophrys were present in 4/14 individuals. Multiple other dysmorphic features, such as high forehead, hypertelorism, anteversion of the nares, and dental anomalies, were described in the cohort.
• Hearing loss
UBR5