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3 patient data entries in database for the exact mutation R232H.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
433R232H4
Axonal sensorimotor neuropathy, sensory ataxia, parkinsonism.
-movement disorder (ataxia)
-sensory ataxia
-axonal sensorimotor polyneuropathy
-parkinson's disease
adult
25n/an/aRouzier et al, 2013;

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434R232H4
Axonal sensorimotor neuropathy
-axonal sensorimotor polyneuropathy
adult
30n/an/aRouzier et al, 2013;

[view data]

435R232H4
Axonal sensorimotor neuropathy, sensory ataxia. Very mild axonal neuropathy identified in this patient's daughter.
-movement disorder (ataxia)
-sensory ataxia
-demyelinating neuropathy
-axonal sensorimotor polyneuropathy
adult
20n/an/aRouzier et al, 2013;

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1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Number of displayed patient cases: 3
Avg age of onset in displayed cases: 25.0
Std dev in onset in displayed cases: 4.1

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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