Phenotype #0000158972

Individual ID 00210407
Associated disease GKD
Phenotype details 4.5y-mild asymmetric spasticity, convergent strabismus, myopia, mild facial dysmorphism, pseudohypertriglyceridemia; glycerol plasma 2.78mmol, urine 170mmol, GK activity 3%; mild intellectual disability
Diagnosis/Initial glycerol kinase deficiency
Inheritance Unknown
Diagnosis/Definite GKD
Age/Examination -
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset episodic vomiting, dysmorphic, mild mental retardation, hyperactivity
Protein -
Owner name Johan den Dunnen