Global Variome shared LOVD

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Phenotype #0000342232 Individual ID 00453574 Associated disease ? Diagnosis/Initial multisystemic disorder Diagnosis/Definite MRMNS Phenotype details see paper; ..., onset childhood; decreased body weight (-8.05 SD); short stature (-2.34 SD); no microcephaly; bilateral sensorineural hearing impairment; no dyspnea; no restrictive ventilatory defect; no respiratory insufficiency due to muscle weakness; muscle weakness; myopathy; no hypotonia; no diaphragm weakness; incoordination; gait disturbance; 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; cerebral atrophy Inheritance Familial, autosomal recessive Age/Examination 28y (28 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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