Fig. 1. Clinical symptoms of patients with autosomal recessive ARS deficiencies reported in literature (left part) and supplemented with P1–5 (right part).

Gray squares represent symptoms reported for 1 patient, black squares symptoms reported for >1 patient. Categories of symptoms occurring in >30% of the individual ARS deficiencies are marked in orange for patients reported in literature and in red after addition of P1–5. MRI magnetic resonance imaging, LVH left ventricular hypertrophy