17901 to 18000 most common queries

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

• White, Spongy Plaques of Nasal Mucosa
• White Spongy Plaques on the Rectal Mucosa
• White Spongy Plaques on the Esophageal Mucosa
• White Spongy Plaques on the Vaginal Mucosa
• Diagnosis in the Second Decade of Life
• Caused by Mutation in the Kizuna Centrosomal Protein Gene
• Atrophic Changes of Central Macula
• Pigmentary Changes in the Peripheral Retina
• Mutation in the NR2F2 Gene
• Mutation in the XYLT1 Gene
• Doughy or Puffy Skin
• Toe Deformities
• Broad Feet
• Extra Ossification
• Monkey-Wrench Appearance of the Femoral Neck
• Multiple Dislocations of Large Joints
• Mutation in the Zona Pellucida Glycoprotein 1 Gene
• Absence of Oocyte Zona Pellucida
• Mutation in the Beta Tubulin Gene
• Microcephaly (2.5-4 SD)
• Band Heterotopia
• White Matter Streaks
• Waxing and Waning Cardiomyopathy
• Frequent Neonatal Sudden Death
• Arrhythmias Detected Prenatally
• Mutation in the 155 kD Nucleoporin Gene
• Ventricular Tachyarrhythmias
• Inconsistent R-R Intervals
• Fast Atrial Rate
• Variable Age at Onset - 2 to 48 Years
• Mutation in the STUB1 Gene
• Mild Distal Sensory Axonal Neuropathy
• Mutation in the IL21 Gene
• Globular Thalamus
• Globular Basal Ganglia
• Highly Variable Dysmorphic Features
• Mutation in the Glutaminyl tRNA Synthetase Gene
• Intractable Severe Seizures
• Impaired Signaling through the T Cell Receptor
• CD4+ T Cell Lymphopenia
• Relatively Benign Course after Acute Episodes in Childhood
• Urine 3-OH-Isovaleric Acid Increased and Ketonuria
• Urine 3-Methylcrotonylglycine Increased
• Urine Methylcitrate Increased
• Urine Propionyl Glycine Increased
• Urine 3-OH-Propionic Acid Increased
• Urine 3-OH-Butyric Acid Increased
• Urine Tricarboxylic Acid Intermediates Increased
• Mild Delayed Psychomotor Development
• Acute Episodic Encephalopathy
• Some Patients Do Not Develop Stroke
• Onset of Achalasia in Infancy or Early Childhood
• Mutation in the Soluble Guanylate Cyclase 1 Alpha 3 Gene
• Stenosis of the Intracranial Arteries
• Ischemic Stroke
• Only Apparent in Patients Taking Eculizumab
• Poor Response to the C5 Inhibitor Eculizumab
• Mutation in the Complement Component 5 Gene
• Onset of Symptoms in the Fourth to Sixth Decade of Life
• Peripheral Embolism
• Ventriculo-Atrial Regurgitation
• No Mitral A Wave on Echocardiogram
• Absence of Atrial Wall Movement on Fluoroscopy
• Lack of Atrial Excitability
• Progressive Decrease in Atrial Voltage
• Onset of Seizures between 8 and 11 Months of Age
• Focal Discharge
• Some Patients Have Only Plantar Surface Involvement
• Mutation in the Keratin 6C Gene
• Mild Hypertrophic Nail Changes
• Non-Epidermolytic Orthohyperkeratosis
• Clavus Formation
• Hyperhidrosis of Plantar Surface
• Plantar Blistering
• Mild Leukokeratosis of Buccal Bite Line
• Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene
• Large, Fleshy Earlobes
• Defective Ossification of the Vertebral Bodies
• Persistent Notochordal Canal
• Vertical Clefting of the Vertebral Bodies
• Mutation in the Low Affinity Receptor IIIa for the Fc Fragment of IgG
• Defective NK Function in Spontaneous Cellular Cytotoxicity
• Numbers of NK Cells Decreased or Normal
• Lymphoproliferation
• Recurrent Infections - Particularly Herpes Viral
• Restrictive Syndrome
• Nail Dysplasia
• Diffuse Collagen Sclerosis
• Elastic Globules in Papillary Dermis
• Enlarged and Fragmented Elastic Fibers
• Atrophy of Epidermis
• Telangiectatic Lesions
• Congenital Poikiloderma on Face and Exposed Skin
• Sparse or Absent Scalp Hair
• Loss of Lower Limb Tendon Reflexes
• Focal Lymphocytic and Macrophage Infiltrates (Biopsy)
• Adiposis (MRI)
• Myogenic Profile on Electromyography
• Contractures of Upper Limbs
• Contractures of Distal Lower Limbs