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