Phenotype #0000351855

Individual ID 00466492
Associated disease NMD
Diagnosis/Initial muscle weakness
Diagnosis/Definite MPXPS
Phenotype details see paper; ..., developmental delay; speech delay; normal growth; height 50th %ile; weight 50th %ile; no hypotonia; no hepatomegaly; normal gait; no frequent falls; no ventricular septal defect; learning disability; no extrapyrimidal signs; hyperactivity
Inheritance Familial, autosomal recessive
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset 11y
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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