Phenotype #0000220050
Individual ID |
00286194 |
Associated disease |
PARK |
Diagnosis/Initial |
Parkinson disease |
Diagnosis/Definite |
WSMN |
Phenotype details |
normal pregnancy/birth; no delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; able to read, able to write; no independent living; no obsessional behavior; no ritualistic behavior; 44y-tremor onset; 45y-parkinsonism diagnosis; akinetic‐rigid Parkinsonism; postural/upper limb tremor; no choreoathetosis; shuffling gait; bradykinesia; dyskinesia; cogwheel rigidity; L‐dopa response (with side effects); hyopkinetic dysarthria; normal cerebellar function; no autism; no seizures; macrocephaly; no frontal bossing; normal eye examination; no strabismus; no iris coloboma; no hydrops; no dysmorphism; no high arched palate; dementia; no skin depigmented papules; MRI T2 weighted slight bilateral reduction signal intensity substantia nigra and globus pallidus; normal copper testing; normal blood count and chemistry; normal urine metabolic testing |
Inheritance |
Familial, X-linked recessive |
Age/Examination |
- |
Age/Diagnosis |
- |
Age/Onset |
- |
Phenotype/Onset |
- |
Owner name |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-02-10 11:37:22 +01:00 (CET) |
Date last edited |
N/A |
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