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pontocerebellar hypoplasia, type 2F
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.
Uniprot Description A neurodevelopmental disorder characterized by progressive microcephaly, cognitive and motor delay, poor or absent speech, seizures, and spasticity. PCH2F inheritance is autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0014874: pontocerebellar hypoplasia, type 2F