Pontocerebellar hypoplasia type 2D
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
Max Magnitude | |
---|---|
rs267607035 | 9 |
rs267607036 | 9 |
rs773876739 | 9 |
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 12920088]