Neuro exam
Blindness (Tay Sachs, NCL, adrenoleukodystrophy)
Vertical gaze palsy (Niemen-Pick)
Seizures (NCL, Tay Sachs, Alpers, adrenoleukodystrophy, HD)
Abnormal movements (Rett, NCL, HD)
Ataxic gait (Friedreichs ataxia)
Changes in tone and motor function, sensory issues