Global Variome shared LOVD

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

Phenotype #0000154527 Individual ID 00206657 Associated disease - Phenotype details cleft palate, short stature, distinctive craniofacial dysmorphism, broad forehead, mild facial asymmetry, downslanting palpebral fissures, thin upper lip, long nose, dental anomalies, high arch palate, proximal weakness of lower limbs, hypokalemic, U wave Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis 31y Age/Onset 20y Phenotype/Onset painful cramps 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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