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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