Vissers-Bodmer syndrome

A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene

A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21.

Signs and symptoms

• Global developmental delay
• Delayed speech and language development
• Motor delay
• Generalized hypotonia
• Intellectual disability
• Short stature
• Abnormal facial shape
• Dysarthria
• Sleep disturbance
• Seizure