47901 to 48000 most common queries

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

• Wide, Bracket-Shaped Metaphyses
• Onset of Dilated Cardiomyopathy Less than 3 Years
• Mutation in the GRIA3 Gene
• Mutation in the IL1RAPL Gene
• Ovarian Hyperandrogenemia
• Choroidal Dystrophy
• Bone Marrow with Leukaemic Cell Infiltration
• Clumsiness
• Mutation in the FLCN Gene
• Mutation in the RAB39B Gene
• Prominent Veins on Scalp, Trunk, and/or Extremities
• Allelic to Mevalonic Aciduria
• Frequency in the Canadian Dariusleut Hutterites Increased
• Megakaryocyte Colony Forming Units Increased
• No Hyperuricemia
• Mitral Valve Double Orifice
• Complete Vestibular Areflexia
• Ischiopubic Ossification Delayed
• Mutation in the Homolog of the Rat Nexilin Gene
• Phenotype May Be Exacerbated by Maltreatment in Childhood
• Finger Twitching
• Sensorimotor Axonal Neuropathy
• Neonatal Urinary Ascites
• Cholinesterase Increased
• Some Female Carriers Are More Mildly Affected
• Early-Onset Dilated Cardiomyopathy
• No Lactic Acidosis
• Normal Platelet Size
• Left Ventricular Anterior Wall Hypertrophy
• Improvement of Epimetaphyseal Changes with Age
• Dense Irregular Pelvic Rim
• Atrioventricular Conduction Defects
• Neurologic Abnormalities or Dysmorphic Features Not in All Cases
• Mean Age of Onset 35-40 Years
• Congenital Complete Achromatopsia
• Mutation in the Monoamine Oxidase A Gene
• Congenital Vitreoretinal Abnormalities
• Hepatic Enzymes Mildly Increased
• Early Death in Males
• Abrupt Transition from Cartilage to Bone
• Lichenification of Trunk
• Thrombocytopenia (Mean: 42.7*10^9/l)
• Asymmetric Interventricular Septal Hypertrophy
• Cloudy Urine
• Variable Hyperlipidemia
• Mutation in the MMP13 Gene
• Diagnosis within the First 3 Months of Life
• Striatal Atrophy
• Rod Dystrophy
• MAOA Products Decreased
• Pupillary Constriction to Light Impaired
• Colorblindness
• Mutation in the X-Linked Aristaless-Related Homeobox Gene
• Disorganization of the Cartilage Column
• Head MRI Abnormal
• 3-Methylglutaconic Aciduria
• Wide Round Iliac Wings
• Mutation in the Calreticulin 3 Gene
• Micromegakaryocytes Increased
• Liver Glycogen Content Increased
• Skin Tenderness
• Mutation in the ABCC8 Gene
• Rare Segmental Demyelination and Remyelination
• Mutation in the Muscarinic Cholinergic Receptor 3 Gene
• Urine Levels of MAO-A Substrates Increased
• Pinched Nasal Alae
• Small Flattened Epiphyses
• Mutations in the PKHD1 Gene
• Borderline-Mild Non-Progressive Mental Retardation
• Aphasia
• Abnormal Ossification Centers
• Sudden Death due to Cardiomyopathy
• Final Adult Height Normal
• Lymphedema of Upper and/or Lower Extremity
• Mutation in the PLN Gene
• Giant Platelet α-Granules (Peripheral Blood)
• Localized Numbness
• Monoamine Oxidase A Activity Decreased
• Limb Joint Contracture
• Duane Anomaly - Reported in 1 Female
• Rapid Disease Progression at Age 40-50 Years
• Non-Clonal Myeloproliferation
• Cardiac Involvement Occurs at Age 5-12 Years
• Uric Acid Decreased
• Radiography Shows Porotic Changes
• Precocious Calcification
• Retrocerebellar Cyst
• Schmorl Nodule Appearance
• Left Ventricular Outflow Obstruction
• Mild Hemorrhagic Diathesis
• Myoglobinuria with Extreme Exertion
• Aplastic Humeri
• Angry Outbursts
• Blue Line at the Gingival Border
• Absence of Pancreatic Autoantibodies
• Thin Optic Nerves
• Onset in Second Decade
• Muscle Involvement at Birth or in Infancy
• Mild Platyspondyly (Adults)
• TmP/GFR Decreased