Global Variome shared LOVD

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

Phenotype #0000053389 Individual ID 00073655 Associated disease ? Diagnosis/Initial dysferlinopathy Diagnosis/Definite - Phenotype details Motor delay (HP:0001270), Difficulty running (HP:0009046), Difficulty walking (HP:0002355), Difficulty climbing stairs (HP:0003551), Neck flexor weakness (HP:0003722), Pelvic girdle muscle weakness (HP:0003749), Gowers sign (HP:0003391), Elevated serum creatine phosphokinase after age 3 (HP:0003236), Inheritance Familial, autosomal recessive Age/Examination <05y (before 5 years) Age/Diagnosis - Age/Onset 00y02m Phenotype/Onset Generalized hypotonia (HP:0001290) Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Pieter Klap Database submission license No license selected Created by Pieter Klap Date created 2016-06-15 13:57:13 +02:00 (CEST) Date last edited 2017-09-08 13:02:04 +02:00 (CEST)

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