Article
Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia.
Neurogenetics - 1 Jan 2023
Gilboa Tal, Elefant Naama, Meiner Vardiella, Hacohen Nuphar
Abstract excerpt
Pontocerebellar hypoplasia is a group of disorders with a wide range of presentations. We describe here the genetic and phenotypic features of PCH type 9 due to mutations in AMPD2. All patients have severe intellectual disability, and the vast majority manifest abnormal tone, cortical blindness, and microcephaly. Almost all have agenesis of the corpus callosum and severe cerebellar hypoplasia. The course is not...
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