Phenotype #0000158940

Individual ID 00210375
Associated disease GKD
Phenotype details proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 4 (4 30y); Brook scale 2; CPK 810; IQ70
Diagnosis/Initial glycerol kinase deficiency
Inheritance Unknown
Diagnosis/Definite GKD
Age/Examination -
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen