Phenotype #0000270399

Individual ID	00375189
Associated disease	MYOP
Diagnosis/Initial	myopathy, cerebellar ataxia
Diagnosis/Definite	-
Phenotype details	born after normal pregnancy, weight of 4400g, neonatal distress, psychomotor development normal; 1y-unable to stand and walk unsupported; psycho-motor delay, slurred speech; muscle weakness; severe growth retardation, short stature (156 cm, -3SD), OFC 57 cm, weight 51 kg (normal range); pes planus, visual impairment; muscular atrophy not obvious; moderate truncal and lower limb ataxia; autistic features, anxiety; computed tomography brain cerebellar atrophy
Inheritance	Familial, autosomal recessive
Age/Examination	18y (18 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	N/A

Global Variome shared LOVD