Global Variome shared LOVD

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

Phenotype #0000333175 Individual ID 00443911 Associated disease ? Diagnosis/Initial spastic cerebral palsy Diagnosis/Definite NEDSWMA Phenotype details see paper; ..., normal delivery, birth weight 6.5 lb; mild/moderate learning disability; delayed walking; no epilepsy; 19y-OFC 53.4 cm; predominantly lower limbs affected; mild upper limb ataxia; ataxic gait; plantar response downgoing; short 4th/5th metacarpals (unilateral); mild hyper-telorism, relative small stature; flexed hips; late sitting; 2y6m-first steps, 10y-max mobility, 13y-detoriation; facial hypotonia; esotropia, nystagmus, jerk in horizontal plane and gaze-evoked upbeat in vertical plane, dysarthria, normal jaw jerk and upper limb co-ordination, normal optic discs; Inheritance Familial, autosomal recessive Age/Examination 19y (19 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 2023-12-06 12:32:04 +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.