Phenotype #0000318030

Individual ID	00426892
Associated disease	hCK
Phenotype details	elevated liver and muscle enzymes during episode of presumed rhinovirus-associated myositis; hyperCKemia (734 U/L); 3y-severe autism;4y-muscle pain after exercise, easy bruising, denied known episodes of myoglobinuria; severe autism, lack of orientation to person, place, time, situation; nonverbal; full strength all extremities; tendon reflexes preserved; no motor delay; no Gower sign
Diagnosis/Initial	hyperCKemia
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	-
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	01y10m
Phenotype/Onset	elevated liver/muscle enzymes
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-02 21:43:15 +01:00 (CET)
Date last edited	2022-12-02 21:48:58 +01:00 (CET)

Global Variome shared LOVD