Pontocerebellar Hypoplasia, Type 6 (PCH6)

Alias:

Pontocerebellar Hypoplasia Type 6

Pch6

Fatal Infantile Encephalopathy with Mitochondrial Respiratory Chain Defects

Encephalopathy, Fatal Infantile, with Mitochondrial Respiratory Chain Defects

Hypoplasia, Pontocerebellar, Type 6

Pontocerebellar Hypoplasia 6

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pontocerebellar Hypoplasia, Type 6, also known as pontocerebellar hypoplasia type 6, is related to non-syndromic pontocerebellar hypoplasia and peho syndrome, and has symptoms including apnea and seizures. An important gene associated with Pontocerebellar Hypoplasia, Type 6 is RARS2 (Arginyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include cerebellum and brain, and related phenotypes are failure to thrive and profound global developmental delay

Related ID：

MALACARDS：PNT036

OMIM：611523

MESH：C548074