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 InternationalCreative Commons License
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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