Sitemap | Symptoma 28601 to 28700 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Shortened Telomeres Increased Risk of Malignancy Small Teeth (Classic Feature) Purple Tongue Discoloration (Classic Feature) Nasolacrimal Duct Obstruction (Classic Feature) Sparse Eyelashes (Classic Feature) Microcephaly (Classic Feature) Some Patients Acquire Late Ambulation Large Platelets Caused by Mutation in the Wolframin Gene (WFS1) Death within 6 Years after Onset Variable Presentation and Evolution of Symptoms Spheroids Contain Neurofilaments Axonal Spheroids Mutation in the Distal-Less Homeobox 5 Gene Cylindrical Nails Asymmetrical Severely Deformed Feet Dorsalization of Palms Tapered Fingers Normal Lower Limbs Asymmetric Short and Severely Deformed Legs Mild Scoliosis Severely Short Stature Mutation in the Glycerate Kinase Gene Hyperglycinemia Urine, Serum and Cerebrospinal Fluid D-Glyceric Acid Increased Periventricular and Subcortical White Matter Abnormalities Hyperglycemia during Crises Metabolic Crises Death Often Occurs during Metabolic or Acidotic Crisis Neurologic Crises with Coma Amniotic Fluid Acetylcholinesterase Increased Amniotic Fluid Increased Cysts Contain Eosinophilic Proteinaceous Material Echodense Kidneys on Ultrasound Focal Hyperplasia of the Choroid Plexus Hyperbilirubinemia Unconjugated 20 30MG/DL Inferior Displacement of the Ears Asymmetric Occiput Subocciptal Indentation Narrow Occiput Sagittal - Lambdoid Sutural Ridging Normal Linear Growth Chiari Type 1 Cerebellar Tonsillar Herniation Progressive Posterior Fossa Crowding Favorable Response to Spironolactone Onset Usually in Infancy or Childhood Urine Cortisol : Cortisone Ratio Increased Kidney Failure if Untreated Renal Salt Reabsorption Increased Renal Involvement and Coloboma May Not Be Present Mild to Severe Liver Involvement Mutation in the RPGRIP1-Like Gene Radial Aplasia Humoral Defect Mild to Severe T Cell Defect Hypoplasia or Aplasia of Thymus High Risk of Death in Infancy due to Cardiac Failure Mitochondrial DNA Depletion Cytochrome C Oxidase Staining Decreased Irregular Position of the Toes Thin Upper Vermilion Obtuse Lower Incisor to Mandibular Plane Angle Malar Underdevelopment Brachydactyly - Toes 2, 4 and 5 Second Phalanx Hypoplasia Camptodactyly of All Fingers Gluteal Hypoplasia Diffuse Arteriomegaly due to Femoropopliteal Occlusion Coronary and Carotid Arteries Spared Iliac Femoral Tibial and Popliteal Artery Calcification Aortic Valve Ring Calcification Mitral Valve Ring Calcification Periarticular Joint Capsule Calcifications Metacarpophalangeal Calcification Periarticular Joint Capsule Calcification of Fingers Vascular and Periarticular Calcification of Hands Tendon Calcification (Lateral Ligaments of Knee and Quadriceps) Intervertebral Disc and Interspinous Ligament Calcification Hypoplastic Scapulae Narrow Thorax Increased Incidence in Asian Countries Gallbladder Atresia Fibrotic Extrahepatic Bile Ducts Bile Duct Plugging Portal and/or Bridging Fibrosis (Liver Biopsy) Generalized Hypertrichosis Nipples Hypoplastic or Absent Anomalous Basal Body Temperature Decreased Mostly due to Mutation in the PHOX2B Gene Some Patients Have Later Onset of the Disorder as Young Adults Worsening of Symptoms during Sleep Mutation in the ASCL1 Gene Mutation in the EDN3 Gene Mutation in the PHOX2B Gene Tumors of the Sympathetic Nervous System Diminished Pupillary Light Responses Dysfunction of the Autonomic Nervous System
