Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000220048 Individual ID 00286192 Associated disease PARK Diagnosis/Initial Parkinson disease Diagnosis/Definite WSMN Phenotype details normal pregnancy/birth; delayed early motor milestones; delayed speech initiation; early learning difficulties; intellectual disability; not able to read, able to write; no independent living; obsessional behavior; ritualistic behavior; tremor onset late childhood; postural/upper limb tremor; no choreoathetosis; no shuffling gait; no bradykinesia; no dyskinesia; no cogwheel rigidity; no 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; 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.