Global Variome shared LOVD

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Phenotype #0000351871 Individual ID 00466508 Associated disease DYT Diagnosis/Initial segmental dystonia Diagnosis/Definite MPXPS Phenotype details see paper; ..., prominent segmental dystonia, proximal weakness, facial dysmorphisms; sensory neuropathy; achexia; cleft palate; hypothyroidism; left radioulnar synostosis; seizures; intellectual disability (IQ55); hypothyroidism Inheritance Familial, autosomal recessive Age/Examination 42y (42 years) Age/Diagnosis - Age/Onset - 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 2025-09-09 10:49:54 +02:00 (CEST) Date last edited N/A

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