Global Variome shared LOVD

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

Phenotype #0000256876 Individual ID 00361471 Associated disease ? Diagnosis/Initial polyneuropathy Diagnosis/Definite - Phenotype details see paper; ..., OFC 52.5cm (10th), length 141cm (50th), weight 46.2kg (50th), BMI 18.83; delayed motor milestones, y-walk with aid; 3y-delayed speech development; severe cognitive delay, severe intellectual disability; strabismus, limited abduction both eyes with narrowing pupil's fissure (Duane syndrome Type 1); dysarthria; no scoliosis; limping gait Spasticity in the ankles; MRI head normal; seizure disorder, resolved with time; ADHD; no lower limb sensory problems Inheritance Familial, autosomal recessive Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-07 09:00:28 +02:00 (CEST) Date last edited N/A

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