44201 to 44300 most common queries

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

• Onset of Hypoglycemia and Hyperinsulinism in the Neonatal Period
• Caused by Mutations in the Procollagen 1 N-Proteinase Gene
• Decreased Amount of Myelin Specific Lipids
• Gastric Polyp
• Arborescent Papillomas - Axillae, Periumbilical Area, Anus, Vulva
• Slowing - Theta Waves Unilaterally on the Right
• Paroxysmal Activity
• Incisal Edge or Occlusal Surface Usually Not Involved
• Poor Secondary Sexual Development
• Anorectal Sinus
• Erythema in Affected Areas
• Short Stature (3rd Percentile)
• Multiple Wormian Bones
• Serum and Muscle Coenzyme Q Decreased
• Patchy Deposition of IgG and IgM
• Spontaneous Neonatal Pneumothorax
• Distorted Triradii of Palmar Skin
• Mutation in the Hepatocyte Nuclear Factor 4 Alpha Gene
• Amount of Myelin-Specific Proteins Decreased
• Slowing - Delta Waves Unilaterally on the Left
• Interictal Ataxia May Occur Later in Disease Course
• Localized Cutaneous Deposits of Superficial Fat
• Enamel Has Horizontal Row of Pits or Linear Depressions
• Thin and Brittle Fingernails
• Caused by Deletion - 1.7 Mb - of 1q41-q42
• Frequency among Individuals of East Asian Descent Increased
• Marked Variability in the Deletion Size
• Paternal Age Effect
• Cerebrospinal Fluid Folic Acid Decreased
• Focal Capillary Obliteration
• Migrating Focal Seizures
• One Japanese Patient Has Been Reported
• Collagen Fibrils Show Hieroglyphic Pattern
• Polyp of the Small Intestine
• Intestinal Transit Delayed
• Biopsy: Foamy Lipid Laden Macrophages
• Possibly Interictal Dystonia Later in Disease course
• PLED Left Only
• Linear or Reticular Hyperpigmentation
• See also X-Linked Dominant Form
• Lung Hypoplasia in Those with Diaphragmatic Hernia
• Fatal Outcome if Untreated
• Straight Eyebrows
• Median Life Expectancy 13.4 Years
• Diffuse Signal Abnormality of Central White Matter
• Poor Response to G-CSF Treatment
• Triggers Are Variable Even within a Family
• Marked Joint Laxity
• Membranoproliferative Glomerulonephritis Seen on Biopsy
• Loss of Hair from Body
• Failure of Pubic Bone Fusion
• Chronic Paranasal Sinusitis
• Paroxysmal Activity - Sharp-Waves Parietal Left
• Caused by Mutation in the Steroid 5-Alpha-Reductase 3 Gene
• Growth Deficit Affecting Lower Segment of Body
• Obesity - after Infancy
• Mild Mental Decline
• Episodes Last from Several Hours to Days
• More Common in Women (90%)
• Onset at 1-70 Years of Age
• Caused by Mutation in the Isoleucyl-tRNA Synthetase 2 Gene
• Premature Coronary Artery Disease
• Deciduous Dentition Shows Enamel Attrition
• Mutation in the Keratin 10 Gene
• Pelvic Osteomyelitis
• Impaired Executive Function
• Obstructive Respiratory Impairment
• Variable Visual Loss
• Muscle Tone Reduced but Power Normal
• Paroxysmal Activity - Spike-and-Slow-Wave Occipital Right
• Papillomas - Lip Gingiva
• Decreased Caveolin 3 Expression Seen on Muscle Biopsy
• Mutation in the MTAP6 Gene
• Associated with Increased Frequency of Autoimmune Diseases
• Developmental Regression in Affected Children
• Episodic Unsteadiness
• Postnatal-Onset Growth Retardation
• Few Fungiform Papillae
• Deciduous Molars Show Abnormal Morphology
• Fiber-Type Grouping Pattern
• Thyroxin Binding Globulin Increased
• Onset at Age 3-7 Months
• Pathogenic CAG Repeat Length is 51 to 78 Triplets
• Poor or Absent Speech
• Paroxysmal Activity - Spike-and-Slow-Wave Frontal Bilateral
• Alar Cleft
• Slow Broad-Based Gait
• Mutations in the Caspase 10 Gene
• Neonatal Vitreous Hemorrhages
• Mutation in the Cytochrome C Oxidase III Gene
• Dystrophic Changes Seen on Skeletal Muscle Biopsy
• Stillbirth or Immediate Neonatal Death
• Laryngeal Edema Can Result in Asphyxiation
• Loss of Myelinated Fibers Seen on Sural Nerve Biopsy
• Excessive Buccal Mucosa
• Myopathic Changes (Biopsy)
• Onset at Age 3-11 Years
• Abdominal CT Scan showing Small-Bowel Wall Thickening
• Normal CAG Repeat Length Is 7 to 32 Triplets
• Suppression Parietal Bilaterally