23101 to 23200 most common queries

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

• Exorbitism
• Vertical Crease in Fourth Interdigital Space
• Transverse Distal Crease Across Palm
• Punctal Pits
• Bilateral Preauricular Sinus
• Progressive Valvular Thickening
• Laryngeal Stenosis or Insufficiency
• Lysosomal-Like Storage Vacuoles in Various Tissues
• Shortened Nose
• 'Happy' Face
• Onset in the 3rd Decade of Life or Later
• Attenuated Vessels
• Visual Acuity Relatively Preserved
• Mutation in the B9D2 Gene
• Persistence of Bile Duct Remnants
• Mutation in the Tectonic Family Member 1 Gene
• Frontotemporal Pachygyria
• Molar Tooth Sign on Brain MRI
• Caused by Mutation in the Palladin Gene
• Pigment Relative to Ethnic Background Reduced
• Absent Platelet Delta Granules
• Hyperelasticity
• Poor Healing with Abnormal Scarring
• Soft with Easy Bruising
• Cornea Plana
• Megalocornea
• Inguinal Umbilical or Epigastric Hernia
• Onset at Age <7 Years
• Mutation in the Zinc Finger Protein 644 Gene
• Myopic Conus
• Tesselated Appearance of Fundus
• Tigroid Appearance of Fundus
• Severe High Myopia
• Catecholamine-Secreting Paraganglioma
• Thromboxane B2 Decreased
• Claw-like Appearance of Fingernails
• Hyponychia
• Onychauxis - Thickening
• Both Heterozygous and Homozygous Mutations Have Been Reported
• Green Color Resolves if Cholestasis Is Treated
• Possibly Bilirubin Increased
• Biliverdin in Bodily Fluids Increased
• Described in Families from Western Japan
• Patients with Longer Disease Duration Show Motor Neuron Involvement
• Mean Age at Onset of Cerebellar Ataxia: 52.8 Years
• Onset at Ages 12-30 Years (Average: 22 Years)
• High Frequency Tinnitus at Onset
• Poor or No Response to Glucocorticoid Treatment
• Mutation in the MYO1E Gene
• Thickening and Disorganization of the Glomerular Basement Membrane
• Microvillous Transformation of Podocytes
• Electron Microscopy Shows Foot Process Effacement
• Complement Component Deposits
• Antibody Deposits
• Death in Utero
• Malformations of the Mid- and Hindbrain
• Death in the Fifth or Sixth Decade
• Onset of Dementia in 4th or 5th Decade
• Caused by Mutation in the DNA Methyltransferase 1 Gene
• Loss of Unmyelinated Fibers
• Lancinating Pains
• Hypometabolism of the Frontal Lobe and Thalamic Regions
• Decreased Speech
• Progressive Memory Impairment
• Onset of Seizures Ranges from 2 to 11 Years
• Mutation in the LAMC3 Gene
• Occipital Polymicrogyria
• Occipital Pachygyria
• Abnormal Lung Lobation
• Clinodactyly
• Rhizomelic Shortening of the Upper Limbs
• Mild Mental Retardation
• Feet Are Unaffected
• Torso and Upper Body Remain Normal in Shape and Contour
• Virtually all Patients with this Condition Are Female
• Dependent Edema after Excess Fat Has Been Present for Several Years
• Tenderness of Lower Extremities
• Deficiency of Laminin in Basement Membranes
• Mild Elbow, Hip and Knee Contractures
• Shortening or Bowing of Humeri
• Rhizomelic Limbs
• Sagittal Suture Synostosis
• Neonatal Cholestasis
• End Stage Renal Disease
• Large Prominent Eyes
• Tightly Adherent Facial Skin
• Normal Growth Parameters at Birth
• Mutation in the AARS2 Gene
• Histiocytoid Changes
• Mild Pulmonary Hypoplasia
• Periodic Stiffness
• Death before Age 3 Years
• Lateral Deviation of the 5th Toe
• Adducted Feet
• Division of the First Metacarpal
• Fusion of the Capitate and Hamate Bones
• Longitudinal Splitting of the Proximal Phalanx of Forefinger
• Supernumerary Carpal Ossification Centers
• Irregular Size of the Metacarpal Epiphyses
• Hitch-Hiker Appearance of the Thumb