Fig. 1: Pedigrees of the families and MRI of the affected children.
From: Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
a Pedigrees of the four families showing recessive inheritance pattern. Patient 1-1 is deceased at the age of 32 months. Patient 3-1 received two copies of chromosome 10 from his mother, which lead to an acquired homozygosity. b Picture of patient 1-1 and patient 4-2 (c) Brain MRI of all eight patients, sagittal (top), coronal (middle) and axial (bottom). The decreased size of the cerebellum is indicated by the yellow arrow. A small pons is seen and on the axial images a decreased size is seen from the caudate nuclei in all patients.
