Global Variome shared LOVD

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

Phenotype #0000125142 Individual ID 00102213 Associated disease MDC Phenotype details proximal weakness with mild progression, facial/bulbar paresis, severe scoliosis (0.9y), nocturnal ventilation (0.3y); contractures generalized; no seizures; MRI brain white matter changes, no gyral abnormalities; CPK: 840; no mental retardation; head control, sit Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 2m Phenotype/Onset generalized hypotonia Protein IHC no LAMA2 Owner name Rosário dos Santos Database submission license No license selected Created by Rosário dos Santos Date created 2007-10-08 08:33:43 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.