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28601 to 28700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Thickening of the Skin Over the Palms and Soles
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