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Occipitoschisis Lateral or Midline Cleft Lip Incomplete Bowel Rotation Abnormality of the Vagina Duplicated Uterus Cerebellar Heterotopia Abnormal Cortical Gyration Severe Prenatal Onset Hydrocephalus Adrenal Gland Dysplasia Found Predominantly in the Amish Population Caused by Mutation in the MKKS Gene Imperforate Anus (8%) Transverse Vaginal Septum Cerebrospinal Fluid and Serum Lysine Increased Cystic Cavitation of the White Matter Cerebellar Atrophy in Most Cases Subcortical Leukoencephalopathy with Cavitation (MRI) Choreodystonia of the Upper Limbs Hepatic Carbamoylphosphate Synthetase-1 Deficiency Urine Orotic Acid Low Plasma Arginine Low Increased Frequency in Persian Jews (1:1,300) Most Patients Are Asymptomatic Mutations in the ABCC2 Gene Bromosulfophthalein Test - Secondary Rise at 90 Minutes Urine Total Coproporphyrin Normal Characteristic Urine Coproporphyrin Pattern Bile Acids Normal Routine Liver Function Tests Normal Non-Visualization of Gallbladder (Cholecystography) Black Liver Coarse Pigment in Centrilobular Cells High Hyperopia Hyperprolinemia - 5-10 Times Normal Mutations in the Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Gene Urine Delta-1-Pyrroline-3-Hydroxy-5-Carboxylate Increased Urine P5C Increased Plasma Delta-1-Pyrroline-5-Carboxylate Levels Increased Hyperprolinemia (10 to 15-fold Increase) Midline Groove Hypoplastic Overfolded Helices Large Philtrum Microbrachycephaly Broad 1st Metatarsal Short, Broad First Toe Enlarged Medullary Canal Bands of Growth Arrest 'Erlenmeyer Flask' Deformity of the Femurs Narrow Obturator Foramen Hypoplastic Ischiopubic Rami Cuboid-Shaped Vertebral Bodies Ovoid-Shaped Vertebral Bodies Widened Ribs Candidiasis Usually As First Symptom Manifestations Continue to Appear until 5th Decade of Life Mutation in the AIRE Gene Ectodermal Dystrophy Multiple Autoantibodies Pituitary Defects Transient Isolated Hypoaldosteronism Anti IgA Antibodies Commonly Present Chloride Levels Elevated Patchy Increase of Bone Mineral Density Normal Cell-Mediated Immunity Severe Intrauterine Growth Retardation Mild-Moderate Ventricular Dilatation Onset of Severe Infantile Form at Age <6 Months Death Frequent in Severe Infantile Form Alkaline Phosphatase Decreased in Heterozygotes Phosphate Elevated in Heterozygotes Tissue and Serum Alkaline Phosphatase Decreased Spurs in Midshaft of Ulna and Fibula Bowed Short Lower Extremities Defective Osteogenesis Vertebral Bodies Often Unossified Craniosynostosis in Infantile Form Marked Retardation of Infantile Form Poorly Formed Teeth Stillborn or Infantile Death - Usual in Prenatal Form Clavicles Least Affected Bone Small Thoracic Cage Presentation after 6 Months Caused by Mutation in the Alkaline Phosphatase Gene Skin Dimple Over Apex of Long Bone Angulation Urine Inorganic Pyrophosphate Increased Characteristic Metaphyseal Radiolucency Rachitic Skeletal Changes Premature Loss of Deciduous Teeth Codominant Inheritance Has Been Suggested Good Response to Phosphate Treatment Intestinal Absorption of Phosphate and Calcium Increased Mutation in the B2M Gene Hypoproteinemia due to Hypercatabolism Short Fragile Nails Hepatic Glycogen Storage IgM Normal IgA Levels Normal Cutaneous Anergy Skin Anergy to Recall Antigens Recurrent Bacterial, Viral, and Fungal Infections