Global Variome shared LOVD

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

Phenotype #0000288732 Individual ID 00395534 Associated disease MD Phenotype details developmental delay; OFC <P3; max. mobility run, jump (worse); no joint contractures; normal speech; intellectual disability; raised CK 2,480-7,774IU/L; no cardiovascular involvement; no ocular involvement; EMG myogenic change; muscle biopsy dystrophic; MRI brain slightly enlarged subarachnoid space, slightly deeper sulcus Diagnosis/Initial CMD-ID Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD1B Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 4m Phenotype/Onset developmental delay Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-12-07 17:31:19 +01:00 (CET) Date last edited N/A

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