Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.
Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic facies, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children with congenital adrenal hypoplasia and glycerol kinase deficiency.
D000309:Adrenal Insufficiency / Q000151:congenital* / Q000235:genetics; D002675:Child, Preschool; D005991:Glycerol Kinase / Q000172:deficiency*; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D010770:Phosphotransferases / Q000172:deficiency*; D013577:Syndrome
D010770:Phosphotransferases; D005991:Glycerol Kinase