Skip to main content
. Author manuscript; available in PMC: 2023 Feb 6.
Published in final edited form as: Genet Med. 2021 Jun 10;23(10):1873–1881. doi: 10.1038/s41436-021-01215-9

Fig. 2. Clinical findings.

Fig. 2

(a) Photographs from individual 1 showing facial dysmorphism. This individual present with mildly coarse face, strabismus, long philtrum, and shallow nose tip. (b) Magnetic resonance image (MRI) from affected individuals showing cerebellar atrophy. Individual 8A: T1 weighted sagittal image shows minimal increase in the interfoliate distance of cerebellum superiorly at the age of 3 years. Individual 8B: T1 weighted sagittal image shows atrophy of the anterior lobe of the cerebellum (superior vermian atrophy) at the age of 2 years. Individual 13B: sagittal, coronal, and transverse MRI images at 12 years old showing cerebellar vermian atrophy predominantly affecting the superior vermis. Cerebellar atrophy was found in individuals 2, 3, 8A, 8B, 11, 12, 13A, 13B, and 19.