Global Variome shared LOVD

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

Phenotype #0000342231 Individual ID 00453573 Associated disease ? Diagnosis/Initial multisystemic disorder Diagnosis/Definite MRMNS Phenotype details see paper; ..., onset mid-30s; no decreased body weight2.08 SD); no short stature (-1.68 SD); no microcephaly; no hearing impairmen; dyspnea; restrictive ventilatory defect; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; no hypotonia; diaphragm weakness; incoordination; gait disturbance; poor gross motor coordination; no delayd gross motor development; cerebellar ataxia; dysarthria; nystagmus; saccadic smooth pursuit; no intention tremor; peripheral neuropathy; cerebellar atrophy; cerebral atrophy Inheritance Familial, autosomal recessive Age/Examination 47y (47 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 2024-09-10 19:59:05 +02:00 (CEST) Date last edited 2024-11-23 09:37:42 +01:00 (CET)

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