Phenotype #0000158975

Individual ID 00210410
Associated disease GKD
Phenotype details 2-year-old boy was born 37w, birth weight 2760g, complicated pregnancy (premature rupture membrane), neonatal meningitis; glycerol plasma 0.08mmol, urine 6.9mmol, GK activity 85%
Diagnosis/Initial glycerol kinase deficiency
Inheritance Unknown
Diagnosis/Definite GKD
Age/Examination -
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset delayed development, hypotonia, positive Gowerís sign, persistent unexplained microcytic anemia
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen