Phenotype #0000124999

Individual ID 00103461
Associated disease MYOP
Phenotype details Elevated serum creatine phosphokinase (HP:0003236), proximal muscle weakness in lower limbs (HP:0008994) and upper limbs (HP:0008997), joint contracture (HP:0001371), hyperintensity of cerebral white matter on MRI (HP:0030890)
Diagnosis/Initial myopathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 02y06m
Phenotype/Onset Frequent falls (HP:0002359), delayed gross motor development (HP:0002194)
Protein -
Owner name Jorge Oliveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jorge Oliveira
Date created 2017-04-14 16:57:23 +02:00 (CEST)
Date last edited 2017-04-14 19:12:58 +02:00 (CEST)

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