Phenotype #0000270400

Individual ID	00375190
Associated disease	MYOP
Phenotype details	born by cesarean section after uneventful pregnancy, weight 3900g; 10m-severe growth and motor delay; similar course to brother incl. muscle weakness, cerebellar atrophy, ataxia; pes planus, mild genu valgus; psychomotor and mental retardation, hypertonia, failure to thrive; slightly short stature (138.4 cm, -2SD), myopia, myopathic face, poor fine coordination; OFC 55.5 cm, weight 32 kg (normal range); sSerum CK significantly elevated (2544 U/L); elevated anti-thyroid peroxidase antibody (anti-TPO) and antithyroglobulin (anti-TG); EMG myopathic pattern; MRI brain atrophy cerebellum and brain stem, predominating at cerebellum
Diagnosis/Initial	myopathy, cerebellar ataxia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-05-29 20:51:42 +02:00 (CEST)
Date last edited	2021-05-29 20:58:16 +02:00 (CEST)

Global Variome shared LOVD