Phenotype #0000050561

Individual ID	00064046
Associated disease	MPXPS
Phenotype details	muscle weakness, proximal, early onset; currently ambulant with support; no chorea; no dystonia; paroxysmal ataxia; short stature; skin atopic dermatitis; no microcephaly; astigmatism, hypermetropia; EMG?; nerve conduction velocity?; MRI brain linear calcification frontal lobe; CPK 800-9000 IU/L; mild learning difficulties
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	28m
Phenotype/Onset	proximal weakness
MotorSkills	runs
Protein	-
Owner name	Marjolein Kriek
Database submission license	No license selected
Created by	Marjolein Kriek
Date created	2013-05-21 21:46:21 +02:00 (CEST)
Date last edited	2013-06-05 10:55:44 +02:00 (CEST)

Global Variome shared LOVD