Global Variome shared LOVD

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

Phenotype #0000051912 Individual ID 00072208 Associated disease LGMDR5;LGMD2C Phenotype details proximal muscle weakness (HP:0003701), no ambulation (-HP:0002540), bilateral calf hypertrophy (HP:0008981), mild scapular winging (HP:0003691), no joint contractures (-HP:0001371), pelvic girdle muscles weakness (HP:0003749), lordosis (HP:0003307), waddling gait (HP:0002515), macroglossia (HP:0000158), no facial weakness (-HP:0010628) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 09y Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-31 14:16:28 +02:00 (CEST) Date last edited 2017-02-18 21:29:01 +01:00 (CET)

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