Figure 2.

Clinical Findings of Affected Individuals

(A–C) Family 1, II-2 at 6 years (A) and 8 years (B), showing high forehead (B) and marked atrophy of the lower legs (C).

(D and E) Family 2, II-4 at 5 years with high forehead, small nose, and thin hair.

(F) Family 4, II-1 at 5 years with triangular facies, micrognathia, and low-set ears.

(G and H) Family 5, II-1 at 23 months, with frontal bossing, deep set eyes, and micrognathia.

(I–L) Individuals II-2 (I, J) and II-1 (K, L) from family 6, demonstrating elongated face, triangular nose and prognathism, and pectus carinatum (I).

(M–P) Mid-sagittal T1-weighted brain magnetic resonance imaging (MRI) images from affected individuals.

(M and N) Individuals with heterozygous recurrent de novo variant show either no significant abnormalities (M, family 1, II-2 at 6 years) or prominent extra-axial spaces and incomplete myelination (N, family 5, II-1 at 8 months).

(O) Family 6, II-1, harboring a homozygous ATAD3A missense variant, had moderate atrophy of the cerebellum (arrow) at age 26 years.

(P) MRI of family 7, II-1, with biallelic deletion of ATAD3A, showed very poor gyration and sulcation (arrowheads) and hypoplastic cerebellum, vermis, and brainstem (arrow).