Phenotype #0000351852

Individual ID 00466489
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; weight 5th %ile; OFC 50th %ile; hypotonia; no hepatomegaly; normal gait; no frequent falls; no ventricular septal defect; learning disability; no extrapyrimidal signs; muscular cramps; proximal myopathy
Inheritance Familial, autosomal recessive
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset 9y
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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.