22601 to 22700 most common queries

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

• Variable Age of Onset of Renal Manifestations
• Coronal and Radicular Dagger-Shaped Pulpal Calcifications
• Mutation in the CLN3 Gene
• Severe Concentric Hypertrophic Cardiomyopathy
• Autophagic Vacuoles Seen on Biopsy
• Affects 1 in 250 000 to 1 Million People Worldwide
• Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
• Mutation in the Stromal Interaction Molecule 1 Gene
• Increased Bleeding Tendency due to Platelet Dysfunction
• Tubular Aggregates (Biopsy)
• Onset at Age 2-20 Years
• Osteochondritis Dissecans of Shoulders, Elbows, and Knees
• Bilateral Hip Pain
• Reduction in Hip Movement
• Bilateral Congenital Hip Dislocation
• Upper- to Lower-Body Segment Ratio Reduced
• Short Trunk Not Evident at Birth
• Mutation in the DLX5 Gene
• Hypoplasia, Fusion and Contractures of Post-Axial Fingers
• Aplasia of Single Digital Ray
• Cerebrovascular Hemorrhagic Attacks
• Protan Defect (Color Vision Testing)
• Tritan Defect on Color Vision Testing
• Choroidal Neovascularization
• Dark Choroid
• Globular Deposits along Major Vascular Arcades
• Linear Deposition of Pale Material in Foveal Area
• Yellow Pigmented Material in Butterfly-Shaped Configuration
• Metamorphopsia
• Onset Usually in Third Decade of Life
• Slowing of Vertical Saccades
• Variable Presentation and Manifestations
• Variable Response to Levodopa Treatment
• Mutation in the DCTN1 Gene
• Glial Inclusions
• TDP43-Positive Neuronal Inclusions
• Midbrain Atrophy
• Behavioral-Variant Frontotemporal Dementia
• Caused by Mutation in the Alpha Synuclein Gene
• Alguria
• 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
• Weakness of the Intrinsic Hand Muscles
• Mutation in the MYH8 Gene
• Fluctuating Sensorineural Hearing Impairment
• 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
• Inert Uterus
• 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
• Thickening of Skin on the Plantar and Palmar Surfaces
• Tooth Agenesis - Variable in Number
• Unilateral Absence of Nasal Cartilage
• Unilateral Hearing Loss
• Possibly Reversal of Hypogonadotropic Hypogonadism
• Fusion of Fourth and Fifth Metacarpal Bones
• Mirror Hand Movements
• 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
• Deep Groove of Philtrum
• 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