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Normal Pepsin Secretion Gastric Acid Secretion Normal Normal Gastric Mucosa Vitamin B12 Deficiency due to Intestinal Malabsorption Mutation in the Amnionless Gene Caused by Mutation in the CUBN Gene Pernicious Anemia not due to Intrinsic Factor Deficiency Chronic Relapsing Megaloblastic Anemia Folic Acid Normal Vitamin B12 Decreased No Antibodies against Intrinsic Factor Intrinsic Factor Protein Normal Plasma Levels of Very Long Chain Fatty Acids Increased Discrete Calcific Stippling Deep Foot Creases Short, Broad Hands Elbow Mobility Decreased Flat Iliac Crest Joint Laxity - Except Elbow Abnormally Pointed Upper Lateral Incisors Agenesis of Maxillary Lateral Incisor Small Malformed Ears Large Anterior Fontanel at Birth Microcephaly (22%) Birthweight <3rd Percentile (87%) Micromelic Dwarfism Adult Female Height: 128-151 cm Adult Male Height 141-155 cm Abnormal Foreskin Mousy Odor Mutation in the Phenylalanine Hydroxylase Gene Maternal Teratogenic Hyperphenylalaninemia Defective Myelin Formation if Left Untreated Seizures - If Left Untreated Deep Tendon Reflexes Increased if Left Untreated Purposeless Movements (if Untreated) Abnormal Limb Posturing (if Untreated) Peculiar Stance and Sitting Posture (if Untreated) Peculiar Gait (if Untreated) Infantile Irritability (if Untreated) Reticular Hyperpigmentation (Neck) Conical Crown Form Survival to 5 15 Years of Age Onset of Acanthosis Nigricans Correlates with Onset of Diabetes Mutation in the INSR Gene Lichenified Skin Fasting Hypoglycemia (early in Disease Course) Postprandial Hyperglycemia Dental Dysplasia Large, Fissured Tongue Weight <5th Percentile Pineal Hypertrophy Altered Melatonin Secretion Bile Duct Dilation and Proliferation Absence of Renal Corticomedullary Differentiation Increased Echogenicity of Entire Parenchyma Mean Age at Diagnosis 16 Years Mutation in the VHL Gene Vertebral Hemangiomas Leukocyte and Platelet Counts Normal Increased Serum Plasminogen Activator Inhibitor 1 (PAI1-173360) Vascular Endothelial Growth Factor Increased Erythropoietin Increased (EPO) Bifid Metatarsal Pointed Distal Phalanges Short, Pointed Phalanges Fused Vertebrae - Cervical Thoracic Lumbar Short Roots Small Lobes Allelic Disorder to Glycogen Storage Disease Type 4 Onset after Age 40 Years Glycogen-Branching Enzyme Activity Decreased or Absent Polyglucosan Bodies in Neuronal and Astrocytic Processes Pyramidal Tetraparesis Mutation in the UROS Gene Mutilating Skin Deformity Pink Urine Uroporphyrinogen III Cosynthase Deficiency in Blood and Fibroblasts Red-Stained Teeth Porphyrin-Rich Gallstones Autosomal Recessive and Dominant Pedigrees Described Absence of Fifth Digit In-Curving Forearms Rib Defects Caused by Mutations in the Peroxisomal Acyl-CoA-Oxidase Gene Plasmalogen Normal Absence of Flash Visual-Evoked Responses Flattened or Absent Electroretinogram Liver Biopsy Shows Normal Numbers of Enlarged Peroxisomes Diffuse Hepatic Steatosis White Matter Hypodensities and Demyelination Neurologic Regression after Age 2 Years Focal Interictal Epileptiform Discharges Multiple Pigmented Nevi Poorly Developed Palmar Creases Protruding Calcaneus Short 3rd 4th Toes Short Metacarpals - 4th-5th Hypoplastic Thenar Hypothenar and Interdigital Eminences Single Flexion Crease Fingers 2, 3 and/or 5