Autosomal recessive hereditary disorder
Congenital pontocerebellar hypoplasia
Developmental hereditary disorder
Hereditary disorder of nervous system
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Congenital pontocerebellar hypoplasia type 4 (disorder)
Congenital pontocerebellar hypoplasia type 4
PCH4 - pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 4
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
A very rare form of PCH with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Has been reported in 10 families to date. Caused by a compound heterozygosity for p.A307S plus non-sense or splice site mutations in the TSEN54 gene. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. Inherited in an autosomal recessive manner.
pontocerebellaire hypoplasie type 4
PCH4
Id718608006
StatusPrimitive
Associated morphologyHypoplasia
Finding sitePontine structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypoplasia
Finding siteCerebellar 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