clinodactyly

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clinodactyly

Associated Diseases	Laboratory Findings	Clinical Symptoms
3-HYDROXYISOBUTYRIC ACIDURIA MIM:236795 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ia MIM:212065 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ij MIM:608093	2-Ethylhydracrilic acid 3-Hydroxyisobutyric acid 3-Hydroxyisovaleric acid 3-Hydroxyisovalerylcarnitine (C5-OH) 3-Hydroxypropionic acid alpha1-Antitrypsine Antithrombin III (AT III) Asialotransferrin Carbohydrate-deficient transferrins Carnitine Cholesterol Coagulopathy/Coagulation factors Disialotransferrin Glycine Haptoglobin Ketone bodies Lactate MRI brain abnormalities [-] Phosphomannomutase Tetrasialotransferrin Thyroxine binding globuline (TBG) Transaminases Transferrin	ascites ataxia cardiomyopathy cataract cerebellar atrophy or hypoplasia clinodactyly dehydration dysmorphism early death enteropathy, protein-loosing failure to thrive feeding difficulties, poor feeding growth retardation heart involvement hydrops fetalis hyperinsulinism hypoglycemia hyporeflexia hypotonia infantile spasms intracranial hemorrhage inverted nipples ketosis lactic acidosis large liver limb abnormalities, limb deformities lipodystrophia liver involvement (acute, chronic, hepatitis) mental retardation metabolic acidosis microcephaly motor retardation nephrosis nephrotic syndrome, congenital nystagmus onset, child onset, infant Organic acids, urine pericardial effusion peripheral neuropathy renal cysts respiratory insufficiency retinitis pigmentosa retinopathy seizures skeletal changes speech development, delayed, abnormal strabismus strokelike episodes vomiting