Phenotype #0000052017

Individual ID	00072344
Associated disease	?
Diagnosis/Initial	myopathy
Diagnosis/Definite	myopathy, myofibrillar, type 1 (MFM-1)
Phenotype details	atrial flutter (HP:0004749), right hypertrophic cardiomyopathy (HP:0001639), congestive heart failure (HP:0001635), Lower limb muscle weakness (HP:00073400), distal myopathy (HP:0003198), short stature (HP:0004322), progressive photophobia (HP:0000613), hoarse voice (HP:0001609), gastroesophageal reflux (HP:0002020), Dysphagia (HP:0002015), progressive truncal obesity (HP:0001956), intermittent depression (HP:0000716), Unconjugated hyperbilirubinemia (HP:0008282), Elevated serum creatine phosphokinase (HP:0003236),
Inheritance	Familial, autosomal dominant
Age/Examination	45y (45 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-06 11:32:03 +02:00 (CEST)
Date last edited	2017-09-08 13:02:04 +02:00 (CEST)