UFC1

Clinical Characteristics

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.