Global Variome shared LOVD

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

Phenotype #0000052800 Individual ID 00073109 Associated disease SCPNK Phenotype details Distal muscle weakness (HP:0002460), mild dysphagia (HP:0002015), Gynecomastia (HP:0000771), Elevated serum creatine phosphokinase (HP:0003236), EMG: myopathic abnormalities (HP:0003458), Degenerative myopathy with neurogenic-like changes (HP:0003198), Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 48y (48 years) Age/Diagnosis - Age/Onset 31y Phenotype/Onset Difficulty walking (HP:0002355) Protein - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-07 11:11:32 +02:00 (CEST) Date last edited 2016-10-11 12:31:54 +02:00 (CEST)

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