Phenotype #0000220049

Individual ID 00286193
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; 38y-tremor onset; 44y-parkinsonism diagnosis; akinetic‐rigid Parkinsonism; postural/upper limb tremor; no choreoathetosis; shuffling gait; bradykinesia; dyskinesia; cogwheel rigidity; L‐dopa response; 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; no dementia; no skin depigmented papules; MRI normal; 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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-02-10 11:37:22 +01:00 (CET)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.