Autosomal recessive hereditary disorder
Congenital pontocerebellar hypoplasia
Developmental hereditary disorder
Hereditary disorder of nervous system
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Congenital pontocerebellar hypoplasia type 6 (disorder)
Congenital pontocerebellar hypoplasia type 6
PCH6 - pontocerebellar hypoplasia type 6
Fatal infantile encephalopathy with mitochondrial respiratory chain defect
Pontocerebellar hypoplasia type 6
A rare form of pontocerebellar hypoplasia with characteristics at birth of hypotonia, clonus, epilepsy, impaired swallowing and from infancy progressive microcephaly, spasticity and lactic acidosis. Reported in less than 10 cases to date. Caused by missense and splice site mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene located to 6q16.1. Prognosis is poor, exact life expectancy is unknown but in most cases does not exceed infancy.
pontocerebellaire hypoplasie type 6
PCH6
Id718606005
StatusPrimitive
Associated morphologyHypoplasia
Finding siteCerebellar structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypoplasia
Finding sitePontine structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified