18801 to 18900 most common queries

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

• Slowing of Vertical Saccades
• Variable Presentation and Manifestations
• Variable Response to Levodopa Treatment
• Mutation in the DCTN1 Gene
• Glial Inclusions
• TDP43-Positive Neuronal Inclusions
• Behavioral-Variant Frontotemporal Dementia
• Caused by Mutation in the Alpha Synuclein Gene
• Mutation in the HCN4 Gene
• Childhood or Young-Adult Onset
• Mutation in the STIM1 Gene
• Fatty Infiltration Seen on Muscle Biopsy
• Internal Nuclei Seen on Muscle Biopsy
• Mutation in the MYH8 Gene
• Ganglion Cell Aggregates
• Disarray of Neural Tissue in Muscularis Propria
• Swelling of Smooth Muscle Cells
• Disarray of Smooth Muscle Cells in Lamina Muscularis
• Degeneration and Fibrosis of Muscularis Propria of Small Bowel
• Thinning of Outer Muscular Layer of Small Bowel
• Megacolon
• Dilated Large Intestine
• Small Intestine Dilated
• Esophageal Motor Dysfunction
• Recurrent Pseudoobstruction
• Recurrent Abdominal Distension
• Decreased Motility
• Abdominal Wall Musculature Absent
• Mutation in the ACTG2 Gene
• Urinary Retention Megacystis
• Hyperfluorescent Temporal Nerve Fiber Bundle Defects on Angiography
• Retinal Pigment Epithelial Defects in the Temporal Nerve Fiber Bundle
• Yellow Lesions Hypofluorescent on Angiography
• Normal or Reduced Electrooculographic Values
• Complete or Partial Tritan Color Vision Defect
• Vitelliform Macular Dystrophy
• Macular or Extramacular Punctate Yellow Lesions
• Some Patients with Advanced Loss of Vision Have Normal EOG
• Complete Penetrance but Extreme Variability of Phenotypic Expression
• Electrooculography Shows Low Arden Ratio
• Electroretinography Responses Normal or Decreased
• Macular or Multifocal Vitelliform 'Egg Yolk' Deposits
• Caused by Mutation in the Bestrophin-1 Gene
• Paucity or Absence of Axillar and Inguinal Lymph Nodes
• Caused by Duplication of 0.9-1.2 Mb on 8q22.1
• Tooth Agenesis - Variable in Number
• Unilateral Absence of Nasal Cartilage
• Unilateral Hearing Loss
• Fusion of Fourth and Fifth Metacarpal Bones
• Mirror Hand Movements
• Estradiol Decreased
• Gonadotropin Levels Low to Undetectable
• Hyperpigmented Patches Increase in Size and Number with Age
• Mutation in the KITLG Gene
• Broad Base of Nose
• Thick Nasal Alae
• Long Prominent Philtrum
• Elongated Hair Shafts
• Thick Follicles
• Hair Follicles Penetrate Deep Into Dermis
• Medullated and Pigmented Hair Follicles
• Ataxia is Slowly Progressive
• Mutation in the ELOVL4 Gene
• Mild Axonal Peripheral Neuropathy
• Hypoesthesia Over Affected Areas
• Mutation in the Tumor Protein p63 Gene
• Mutation in the CRYBA2 Gene
• Absence of Interphalangeal Creases
• Muscle Mass Decreased
• Chiari I Malformation of the Cerebellum
• Prevalent in Newfoundland
• Onset at Age 10-20 Years
• Pes Cavus Muscle : Leg Muscle Stiffness
• Vibration Sense in the Lower Limbs Decreased
• Mutation in the BMS1 Gene
• Grooved Enamel
• Teeth May Undergo Post-Eruptive Changes
• Pain Mostly in Trunk, Extremities, Pelvic Region, Buttocks
• Mature Adipocytes
• Well-Circumscribed and Painful Subcutaneous Lipomas
• Painful Adipose Tissue
• Prominent Thickening of Nail Beds
• Defective Response of B and T Cells to Activation
• Onset of Disease around 10 Years of Age
• Peripheral Vision Decreased - Childhood Onset
• Ventilation May Be Required
• Onset Usually in the Neck
• Mutation in the GDF1 Gene
• Multiple Congenital Contractures - Predominantly Knees and Ankles
• Infertility due to Asthenozoospermia
• Platelets Have Increased Expression of CD34
• Anterior Commissure Not Evident
• Subclinical Axonal Neuropathy
• Hair Loss Begins in First Years of Life
• Recurrent Acute Secretory Diarrhea
• Urinary Hypoxanthine Increased
• Constricted Glottic and Subglottic Airway
• Sparing of Optic Tracts
• Increased Density of the Upper Eyelashes
• Uveal Coloboma