Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000154570 Individual ID 00206700 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, VT, PVC, LQT. muscle biopsy: tubular aggregates. Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis 12y Age/Onset 2y 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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