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autosomaal recessieve spastische paraplegie type 39 (aandoening)
autosomaal recessieve spastische paraplegie type 39
spastische paraplegie door NTE-mutatie
SPG39
spastische paraplegie door neuropathische target esterase-mutatie
Autosomal recessive spastic paraplegia type 39
Spastic paraplegia due to NTE (neuropathy target esterase) mutation
Spastic paraplegia due to neuropathy target esterase mutation
This syndrome has characteristics of progressive spastic paraplegia and distal muscle wasting. So far, it has been described in two families. All affected individuals carried mutations in the neuropathy target esterase (NTE) gene, encoding a neural membrane protein.
Id719103009
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4
CorrelationSNOMED CT source code to target map code correlation not specified