Neurological:
• Intellectual disability
• Global developmental delay
• Axial hypotonia
• Peripheral spasticity
• Hyperreflexia, with or without clonus
• Intention tremor
• Seizures
• MRI may show delayed myelination and/or basal ganglia abnormalities (bilateral hyperintense signals)
Head and Neck:
• Microcephaly (always secondary i.e. postnatal)
• Oculomotor apraxia
• Poor fixation
• Facial dysmorphia (seen in some cases)
Short stature, gastric reflux, constipation are other features that may be seen in patients with UFC1 mutations.
UFC1