Phenotype #0000351857

Individual ID 00466494
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; no hypotonia; no hepatomegaly; ventricular septal defect; no extrapyrimidal signs; dysmorphism (short neck, doughy skin, lax joints, down turned lower lip, tented upper lip, mild syndactly); ultrasound coarse liver
Inheritance Familial, autosomal recessive
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset 2y
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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