Global Variome shared LOVD

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Phenotype #0000351474 Individual ID 00466088 Associated disease MDC1A Diagnosis/Initial MDC-1A Diagnosis/Definite MDC1A (# 607855) Inheritance Familial, autosomal recessive Phenotype details Talipes equinovarus (HP:0001762), Hamstring contractures (HP:0003089), Motor delay (HP:0001270), Highly elevated creatine kinase (HP:0030234), Abnormal brainstem MRI signal intensity (HP:0012747), Macroglossia (HP:0000158) Age/Examination 03y (3 years) Age/Diagnosis 03y11m Age/Onset - Phenotype/Onset - Protein - Owner name María Eugenia Foncuberta Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by María Eugenia Foncuberta Date created 2025-08-05 15:14:03 +02:00 (CEST) Date last edited 2025-08-06 09:51:29 +02:00 (CEST)

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