Global Variome shared LOVD

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Phenotype #0000154559 Individual ID 00206689 Associated disease - Phenotype details broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, U wave, LQT,PVC. muscle biopsy: tubular aggregates. Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis 20y Age/Onset 15y Phenotype/Onset periodic paralysis Protein - Owner name Ikuko Takeda Database submission license No license selected Created by Ikuko Takeda Date created 2013-05-22 12:31:07 +02:00 (CEST) Date last edited N/A

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