Sitemap | Symptoma 22601 to 22700 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. 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 Mild Axonal Peripheral Neuropathy
