Phenotype #0000351854

Individual ID 00466491
Associated disease NMD
Diagnosis/Initial muscle weakness
Diagnosis/Definite MPXPS
Phenotype details see paper; ..., developmental delay; speech delay; elevated liver transaminases; elevated CK level; poor growth; height <5th %ile; OFC 75th %ile; no hypotonia; hepatomegaly; normal gait; no frequent falls; no ventricular septal defect; learning disability; no extrapyrimidal signs; easy fatiguability, muscle pain with walking long distances; increased liver periportal echogenicity on ultrasound abdomen
Inheritance Familial, autosomal recessive
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset 10y
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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