Fig. 1.

Frequency of NGLY1 Deficiency Related Symptoms by Caregiver Report. Frequency of symptoms reported in our NGLY1 Deficiency cohort for whom phenotypic data was available (N = 37; 19 males, 18 females). This bar chart demonstrates the number of patients affected by each clinical feature surveyed in the questionnaire. Males are colored in turquoise and females are colored in orange. The percentage represents the proportion of males or females with relevant symptoms compared to the whole cohort