Phenotype #0000351861

Individual ID 00466498
Associated disease NMD
Diagnosis/Initial muscle weakness
Diagnosis/Definite MPXPS
Phenotype details see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; normal growth; height 10th %ile; weight 10th %ile; OFC 25th %ile; hypotonia; no hepatomegaly; no ventricular septal defect; learning disability; 4y-extrapyrimidal signs; myopathic face; choreoathetoid movement hands/legs; orofacial dyskinesia
Inheritance Familial, autosomal recessive
Age/Examination 3y (3 years)
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-09-08 19:30:15 +02:00 (CEST)
Date last edited N/A

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