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. Author manuscript; available in PMC: 2021 Sep 27.
Published in final edited form as: N Engl J Med. 2021 Jun 24;384(25):2406–2417. doi: 10.1056/NEJMoa1915722

Figure 2. Identification of Five Families with Ataxia and Developmental Delay and Deleterious, Biallelic ATG7 Variants.

Figure 2

The pedigrees shown in Panel A represent families with ATG7 variants. Circles denote female family members, squares male family members, diamonds family members of unknown sex or undisclosed gender, and shaded symbols affected family members. Double horizontal lines between two symbols indicate a consanguineous relationship, and a diagonal line through a symbol indicates a deceased family member. P1 through P12 denote Patients 1 through 12. Clinical photographs are shown in Panel B: Patient 1 (at 27 years of age) and Patient 2 (at 17 years of age) from Family 1, Patient 3 (at 18 years of age) and Patient 4 (at 15 years of age) from Family 2, Patient 6 (at 71 years of age) from Family 4, and Patient 11 (at 5 years of age) from Family 5.