Global Variome shared LOVD

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Phenotype #0000180269 Individual ID 00240115 Associated disease SCAR Phenotype details SARA score: 33; cerebellar ataxia; dysfunction upper motor neuron, spasticity lower limb; dysfunction lower motor neuron; respiratory distress (BIPAP all day), mental retardation (IQ=60), hypertelorism, CK elevation, pes cavus, hyperlaxity, Achilles tendon contractures; MRI cerebellar atrophy; no peripheral neuropathy; EMG acute and chronic neurogenic Diagnosis/Initial cerebellar ataxia plus Inheritance Familial, autosomal recessive Diagnosis/Definite SCAR-8 Age/Examination 28y (28 years) Age/Diagnosis - Age/Onset 6y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-06-11 13:42:08 +02:00 (CEST) Date last edited N/A

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