27601 to 27700 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Death Usually in the Perinatal Period
• Lung Hypoplasia Secondary to Oligohydramnios
• Dilated Bile Ducts
• Hyperplastic Biliary Ducts
• Dysplastic Bile Ducts
• Ureteral Atresia
• Deficient Nephron Differentiation
• Number of Nephrons Decreased
• Muscle Coenzyme Q Deficiency
• Mutation in the MKKS Gene
• Caused by Mutation in the BBS7 Gene (BBS7)
• Mutation in the BBS5 Gene
• Mutation in the BBS4 Gene
• Caused by Mutation in the BBS2 Gene (BBS2)
• Caused by Mutation in the BBS1 Gene (BBS1)
• Mutation in the Regulatory Factor X, Ankyrin Repeat Containing Gene
• Mutation in the RFX5 Gene
• Mutation in the MHC2TA Gene
• Caused by Mutation in the Klotho Gene
• Mutation in the PMM2 Gene
• Abnormal Glycoproteins
• Most Patients Are Wheelchair Bound
• Stereotypic Behaviors (Hand-Washing Movements, Head Banging)
• Mutation in the PEX26 Gene
• Mutation in the PEX6 Gene
• Mutation in the Peroxisome Biogenesis Factor 5 Gene
• Reduced Numbers of Peroxisomes
• Necrotic Hepatocytes on Biopsy
• Giant Cell Hepatitis on Biopsy
• Aplastic or Hypoplastic First Metacarpal
• Colors Indistinguishable
• Increased Prevalence in Individuals of Turkish Descent
• Slightly Increased Female-to-Male Ratio (1.4-2:1)
• Caused by Mutation in the Plasminogen Gene (PLG)
• Risk of Thrombotic Vascular Events Not Increased
• Pseudomembranous Inflammation of the Lung
• Pseudomembranous Inflammation of the Bronchi
• Pseudomembranous Inflammation of the Larynx
• Pseudomembranous Inflammation of the Nasopharynx
• Pseudomembranous Inflammation of the Sinuses
• Small Papules on Sun Exposed Areas
• Subepithelial Fibrin Deposition with Inflammation of Mucosal Tissues
• Plasminogen Activity Decreased
• Plasminogen Antigen Decreased
• Severe Gingivitis
• Pseudomembranous Inflammation of the Oral Mucosa
• Ligneous Gingivitis
• Formation of Mucosal Pseudomembranes That Progress to Plaques
• Redness of the Conjunctivae
• Chronic Tearing
• Pseudomembranous Inflammation of the Middle Ear
• Pseudomembranous Inflammation of the Gastrointestinal Mucosa
• Pseudomembranous, Calcified Plaques in the Renal Collecting System
• Caused by Somatic Mutation in the GNAS Gene
• Caused by Mutation in the Fibulin 5 Gene
• Underdeveloped Elastic Fibers in Dermis
• Increased Vascularization, Reduced Collagen Bundle Size
• No Skin Hyperelasticity
• Excessive Skin Folds
• Sagging Cheeks
• Specific Visual Spatial Processing Defect
• Subset of Patients with SCO2 Mutations Have Cardioencephalomyopathy
• Fractional Excretion of Urate Increased (>50%)
• Tubular Defect in Presecretory Reabsorption of Urate
• Small or Absent Nails on the Hands and Feet
• Serum and Urine 2-Oxoglutarate Increased
• Small or Absent Distal Phalanges
• Often Fatal in Infancy Due to Intractable Diarrhea
• Patients Need Lifelong Total Parenteral Nutrition
• Onset Usually in First Month of Life
• Abnormal Serum Liver Enzyme Levels
• Progressive Hypermethioninemia
• Galactosuria without Galactosemia
• Defective Antigen-Specific Skin Response
• Defective Antibody Response
• Square Forehead
• Diarrhea Secretory Severe
• Hepatocyte Iron Increased
• Mutation in the NOLA3 Gene
• Dense Vertebral Bodies
• X-Linked Inheritance Could Not Be Ruled out
• Poor Response to Levodopa Treatment
• Mean Age at Onset 27 Years
• Spasmodic Dysphonia due to Laryngeal Spasm
• Possibly Generalization of Dystonia
• Focal Dystonia at Onset
• Irregular Metacarpal Metaphyses
• Small, Rounded Epiphyses
• Longitudinal Metaphyseal Spurs
• Wide, Bracket-Shaped Metaphyses
• Ischiopubic Ossification Delayed
• Dense Irregular Pelvic Rim
• Wide Round Iliac Wings
• Sudden Death due to Cardiomyopathy
• Cardiac Involvement Occurs at Age 5-12 Years
• Muscle Involvement at Birth or in Infancy
• Caused by Mutation in the Titin Gene
• Dystrophic Changes (Later)
• Disruption of the M-Line
• Type 1 Fiber Predominance