Malaysian Node of the Human Variome Project Database
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Phenotypes for disease #00039 (PD (Parkinson’s disease))
Legend
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Phenotype details
: Additional information on the phenotype of the individual.
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
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Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
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Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Complex
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7 entries on 1 page. Showing entries 1 - 7.
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How to query
Phenotype ID
Phenotype details
Inheritance
Owner
Individual ID
0000000218
Age at PD motor symptom onset: 13, Bradykinesia, Rigidity, Tremor, Gait difficulty, Gait freezing, Postural instability/Falls, Dystonia, Obvious asymmetry, Diurnal variation, Sleep benefit, Clear favourable response to dopaminergic medication, Motor fluctuations, LD-induced dyskinesias, Insomnia, Mild Depression, Anxiety, Mild cognitive impairment
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Nur Aisyah Athirah
00000617
0000000219
age diagnosed with PD: 37y/o, has moderate right laterocollis and severe rigidity at the neck, total CISI-PD score (performed blinded to the patient’s genetic result) was 16 (motor signs 6, disability 6, motor complications 0, cognitive status 4), ha "purposeless groaning".
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Nur Aisyah Athirah
00000618
0000000220
age diagnosed with PD: 58 y/o, reduced arm swing on the right, had mild-to-moderate severity motor fluctuations, developed mild-tomoderate slurring of speech, CISI-PD scores (conducted blinded to the patient’s genetic result) were 4/4/4/1, indicating “moderate” global PD severity.
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Nur Aisyah Athirah
00000619
0000000229
bilateral leg tremors at age 41 years, experiencing slowness in movement at age 46 years, have motor fluctuations (with leg cramping and dystonia during OFF-periods) and peak-dose dyskinesias, mild cognitive impairment (MoCA score 20/30; he had attended school for 9 years), visual hallucinations with loss of insight, RBD, and constipation
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Nur Aisyah Athirah
00000640
0000000230
developed bilateral fine hand tremors at age 40 years associated with slow movements, develop mild motor fluctuations and peak-dose dyskinesias, During OFF-periods, he was moderately bradykinetic with leg cramping and stiffness, but remained independent, had mild auditory hallucinations with retained insight.
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Nur Aisyah Athirah
00000641
0000000238
Age at PD onset: 35, Bradykinesia, Rigidity, Tremor, Gait difficulty, Postural instability, hands Dystonia
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Nur Aisyah Athirah
00000652
0000000239
Age at PD onset: 60, Bradykinesia, Rigidity, Gait difficulty, Postural instability, Foot Dystonia
-
Nur Aisyah Athirah
00000653
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