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Pontocerebellar hypoplasia type 2D

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

 Max Magnitude

Pontocerebellar hypoplasia type 2D (PCH2D) is an autosomal recessive disorder caused by mutations in the SEPSECS gene. PCH2D is characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures.[PMID 12920088OA-icon.png]