33501 to 33600 most common queries

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

• Cortisol Does Not Decrease on Dexamethasone Suppression Test
• No Progression to Cancer
• Double Superior Vena Cava
• Pulmonary Hypoplasia Secondary to Diaphragmatic Hernia
• Enlarged Ocular Globes
• Mutation in the TREX1 Gene
• Acrocyanosis of the Feet
• Anterior or Posterior Placement of Anus
• Anomalous Attachment of Gut
• Diaphragmatic Defect Often Unilateral and Left Sided
• Atretic Ureter
• Uterus and Vagina Duplex
• Muscle Pain and Cramps Following Exercise
• A Severe Infantile Variant Has Been Rarely Reported
• Late Adult-Onset Has Been Reported
• Exercise Intolerance Often Evident in Childhood
• Mutation in the Muscle Phosphofructokinase Gene
• No Increase of Muscle Lactate with Ischemic Exercise Testing
• Erythrocyte 2,3-Diphosphoglycerate Decreased
• Gout due to Increased Uric Acid
• Muscle Glycogen Content Increased
• Muscle Fibers May Contain Abnormal Polysaccharide
• Jaundice due to Hemolytic Anemia
• Gallstones due to Hemolytic Anemia
• Affects 1-2 in 400 Individuals of Northern European Descent
• Iron-Stainable Hepatic Parenchymal Cell Increased
• Patients Do Not Have Clinical Hypothyroidism
• Onset of Other Symptoms in Adolescence or Early Adulthood
• Onset of Mental Impairment in Early Childhood
• Short, Sparse, Fine Hair
• Atrophic Seminiferous Tubules
• Testicular Biopsy Shows Hypospermatogenesis
• MRI Shows Decreased Signal Intensities in the Basal Ganglia
• Failure of Secondary Sexual Development
• Hypogonadotropic Hypergonadism
• Affected Individuals Are Highly Prone to Burn Related Injuries
• All Other Sensory Modalities Are Intact
• Polyploid Sperm Heads
• Multi-Tailed Spermatozoa
• Irregularly Shaped Sperm Heads
• Large Spermatozoa
• Initial Cases Reclassified as Having Schwartz Jampel Syndrome
• Large Ossification Centers
• Absent Ossification of Capital Femoral Epiphysis
• No Coronal Clefts
• Joint Stiffness - Neck Shoulder Elbow Hips
• Normal Ribs
• Lateral Curving of Inferior Scapular Angle
• Adult Form Onset Has after 20 Years
• Juvenile Form Has Onset between 4 and 19 Years
• Late Infantile Form Has Onset between 19 Months and 4 Years
• Infantile Form Usually Leads to Death by Age 2 Years
• Infantile Form Accounts for 90% of Cases
• Infantile Form: Onset within First 6 Months of Life
• Mutations in the GALC Gene
• Diffuse Demyelinating Neuropathy
• 'Globoid Multinucleated Cells' in Brain Tissue
• Hypertonia in Early Stage
• Oligosyndactyly
• Life Threatening Metabolic Decompensation
• Dihydrolipoyl Dehydrogenase Deficiency
• Thiamine-Responsive Form
• Intermediate
• Most Patients Are Clinically Asymptomatic
• Methionine Increased
• Fetid Breath due to Increased Dimethylsulfide
• Neurologic Involvement Is Rare
• Self-Regulated Protein Restriction
• Mutation in the Methylmalonyl CoA Epimerase Gene
• Normal B12
• Propionylcarnitine Increased
• Total Homocysteine Normal
• Mild Methylmalonic Aciduria
• Mutation in the GNPTAB Gene
• Valvular Heart Disease - Aortic Valve Stenosis
• Mutations in the GUSB Gene
• See Also X-Linked and Autosomal Dominant Forms
• Mutation in the BIN1 Gene
• Centralized Nuclei (Muscle Biopsy)
• Possibly Distal Muscle Weakness
• Absence of Hypertension
• Mean Age at Onset of End-Stage Renal Disease: 13 Years
• Mutation in the NPHP1 Gene
• Hyposthenuria - Inability to Concentrate Urine Normally
• Mutation in the Palmitoyl Protein Thioesterase 1 Gene
• Autosomal Dominant Omodysplasia Has Also Been Described
• Small Pterygia (Axillary, Popliteal)
• Hemangiomas (Face, Glabella)
• Short, Thick Fibulae
• Short Thick Tibiae
• Proximal Club-Shaped Femurs
• Anterolateral Radial Head Dislocation
• Hypoplastic Everted Lateral Condyle
• Radioulnar Diastasis
• Knee Flexion and/or Extension Limited
• Elbow Flexion and Extension Limited
• Thin Vermilion
• 35% of Cases Involve Ileum only
• 5-10% of Patients Have a First Degree Relative with Inflammatory Bowel Disease
• Aphthous Ulcers - Lips, Gingiva, Buccal Mucosa