Global Variome shared LOVD

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Phenotype #0000270397 Individual ID 00375187 Associated disease ? Diagnosis/Initial cerebellar atrophy, pigmentary retinopathy Diagnosis/Definite - Phenotype details birth 40w, emergency cesarean section due to non-reassuring fetal status, non asphyxia, OFC 31.5 cm (−1.4 SD), weght 3055 g (+0.2 SD), height 45.7 cm (−2.0 SD); motor delay; slight intellectual disability; perverted ocular movement; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; pigmentary retinopathy, esotropia, hypermetropia; recurrent digestive symptom; scoliosis; plasma CK 430 U/K; MRI atrophy cerebellar vermis and hemispheres Inheritance Familial, autosomal recessive Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset 00y05m 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 2021-05-28 20:56:54 +02:00 (CEST) Date last edited 2021-05-28 21:12:57 +02:00 (CEST)

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