Global Variome shared LOVD

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Phenotype #0000342236 Individual ID 00453578 Associated disease ? Diagnosis/Initial multisystemic disorder Diagnosis/Definite MRMNS Phenotype details see paper; ..., onset childhood; decreased body weight (-2.87 SD); no short stature (-1.37 SD); no hearing impairmen; dyspnea; restrictive ventilatory defect; respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; no hypotonia; no diaphragm weakness; incoordination; gait disturbance; no poor gross motor coordination; no delayd gross motor development; cerebellar ataxia; dysarthria; no nystagmus; no saccadic smooth pursuit; no intention tremor; peripheral neuropathy; cerebellar atrophy; no cerebral atrophy Inheritance Familial, autosomal recessive Age/Examination 21y (21 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)

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