Phenotype #0000166382

Individual ID 00217932
Associated disease MHS
Diagnosis/Initial malignant hyperthermia susceptibility
Diagnosis/Definite MHS-1
Phenotype details Facial and proximal limb weakness; bilateral ptosis; proeminant philtrum; low-set ears, and webbed neck; CPK elevated (HP:0003236) 2,243
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis 12y
Age/Onset -
Phenotype/Onset Reduced fetal movements; hypotonia; dysmorphism; feeding problems
Protein oliveiraj
Owner name Jorge Oliveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-12-04 18:13:56 +01:00 (CET)
Date last edited 2012-03-09 19:12:55 +01:00 (CET)

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