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Vertical Gaze Limitation Decreased Vibratory and Positional Sense Mild Cognitive Regression Mild Developmental Delay Motor Regression Prominent Full Lip Lacunar Retinal Depigmentation Hypermetropic Astigmatism Bulging Forehead Sloping Forehead Mutation in the Kinesin Family Member 11 Gene Lymphedema Hands Lymphedema on Dorsa of Feet Deletion of 11q23 Vaginal Agenesis Septate Vagina Uterus Didelphys Responsive to Thiazide Diuretics Mild Hypertension Intermittent Muscle Aches Non-Hemolytic Unconjugated Hyperbilirubinemia Vision Loss with Age Oral Motor Dysfunction Sparse and High-Arched Eyebrows Broad Forehead Pulmonary Valve - Mild Stenosis Moderate Aortic Regurgitation Mild Stenosis - Aortic Valve Moderate Tricuspid Regurgitation Tricuspid Valve - Thickening to Severe Stenosis Mild to Moderate Mitral Regurgitation Mitral Valve - Thickening to Severe Stenosis Hypertrophy of All 4 Chambers of Heart Prenatal and Postnatal Short Stature Variable Metacarpal Shortening Hypotubulation of Long Bones of Legs Anterolateral Tibial Bowing Ulna Proximal Bowing Distal Humerus Bifurcation Prominent Iliac Bones Widened Iliac Bones Superior and Inferior Vertebral Body Notching Interpedicular Distance Narrowed in Lumbar Area Diffuse Osseous Demineralization Caused by Mutation in the Inducible Costimulator Gene Distal, Free Edge of Toenail is Deformed and Narrow Nail Plate Buried in Nail Bed Toenail Dystrophy Most Severe in Nails of Great Toes Acquired Microcephaly Migrating Focal or Multifocal Origin Myoglobinuria Particularly after Physical Exertion Coagulopathy in Those with Liver Failure Hyperbilirubinemia in Those with Liver Failure Urine Succinic Acid Increased Urine Malic Acid Increased Urine Fumaric Acid Increased Urine Citric Acid Cycle Intermediates Increased Mutation in the CACNA1A Gene Brain Edema Following Head Injury Does Not Result in Renal Failure Mutation in the Collagen Type 4 Alpha 3 Gene Mutation in the COL4A3 Gene Early Onset Mixed Conductive and Sensorineural Deafness All Reported Cases Have Occurred Sporadically Progressive Cerebellar Atrophy Onset of Bleeding in Infancy or Early Childhood Mutation in the Neurobeachin-Like Protein 2 Gene Low to Normal Platelet Count Mutation in the MYOC Gene Most Individuals Are Asymptomatic IgA Decreased Mutation in the SNF2 Related CBP Activatory Protein Gene Unilateral Renal Pyelectasis Bilateral Epididymal Cysts Posterior Urethral Valves Mild Intellectual Impairment Grooved Columella Bilateral Cleft Nares Variable Limb Malformations Duplication of Bones of the Feet Dysplastic Tarsal Bones Dysplastic Carpal Bones Duplication of Bones of the Hand Symmetrical Autopodial Duplication Aplasia of the Tibia Dysplastic Tibia Ulnar Duplication Symmetrical Zeugopodial Duplication Reduction Deficits of Halluces Monophalangism of First Metatarsal Malformed First Metatarsal Reduction Deficits of Thumbs Proximal Medial Tibial Osteochondromas Many Patients Become Wheelchair-Bound Later in Life Cerebellar Ataxia Shows Onset in Young Adulthood Skin Lesions Improve in the Summer Papulosquamous Erythematous Plaques Erythrokeratodermia Small-Fiber Neuropathy Intraepithelial Nerve Fiber Density Decreased