Global Variome shared LOVD

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

Phenotype #0000220051 Individual ID 00286195 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; able to read, able to write; independent living; hyperactive/disruptive behaviour (1/6); 10‐20s tremor onset; 20s-parkinsonism diagnosis; postural/upper limb tremor (4/6); choreoathetosis (1/6); shuffling gait (5/6); bradykinesia; cogwheel rigidity; no L‐dopa response (3/3); hyopkinetic dysarthria; normal cerebellar function; seizures (2/6); macrocephaly; frontal bossing; normal eye examination (4/6); strabismus (1/6); iris coloboma (1/6); hydrops (1/6); high arched palate (5/6); skin depigmented papules 4/6; CT-scan megalencephaly; EEG abnormal (2/6); 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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