Global Variome shared LOVD

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

Phenotype #0000333172 Individual ID 00443908 Associated disease ? Diagnosis/Initial spastic cerebral palsy Diagnosis/Definite NEDSWMA Phenotype details see paper; ..., full-term normal delivery; mild/moderate learning disability; no epilepsy; no microcephaly; predominantly lower limbs affected; increased lower limb reflexes/tone; plantar response upgoing; 22y-dysarthria, fixed flexion knees; upper and lower limb wasting; became wheelchair dependent; congenital convergent squint; normal nerve conduction studies, EMG normal, creatinine kinase normal Inheritance Familial, autosomal recessive Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset 1y 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.