Main clinical features
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neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging
generalized weakness, global hypotonia, and cerebellar deficits such as uncoordinated limb movement, hyporeflexia, and impaired or no ambulation
prenatal onset, and characterized by hypoplasia of pons and cerebellum
Brain MRI showed pontocerebellar hypoplasia in all subjects, along with thin corpus callosum and cortical hypoplasia in some |