42201 to 42300 most common queries

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

• Disproportionately Large Ears
• Brugada Pattern on Electrocardiography
• Predominance of the D-Stereoisomer
• Onset in Third to Fifth Decade of Life
• Risk of Sudden Death due to Cardiac Defects
• Laryngo-, Tracheo-, Bronchomalacia
• Three Patients Have Been Reported
• Increased Lipid Droplets and Abnormal Mitochondria
• Chronic Renal Excretion of 3-Hydroxyisovaleric Acid
• Paroxysmal Activity - Spikes Frontal Bilaterally
• Mean Age at Onset is 10.4 Years
• Electrolyturia
• Hb H Erythrocyte Inclusions
• Mutations in the LBR Gene
• Sparse, Androgenic Hair
• Traveled to or Resided in Alaska
• One Family Has Been Reported - Last Curated November 2014
• Flat Nasal Bridge (33%)
• Germinal Cysts Over the Caudate
• Mutation in the PI12 Gene
• Brachymesophalangy of Hands and Feet
• Absence of Muscle Pseudohypertrophy
• Mutation in the GLUL Gene
• Muscle Biopsy Shows Decrease or Absence of Cytochrome C Oxidase
• Nonspecific Abnormal Findings and Disorganization
• Possibly Status Epilepticus
• Chronic Urinary Excretion of 3-Methylcrotonylglycine
• Renal Tubular Insufficiency
• Small, Triangular Nose
• Ventricular Septal Defect - Homozygote
• Hypergonadotropic Hypogonadism
• Upslanting Palpebral Fissures (97%)
• Neuronal Inclusion Bodies Stain for Neuroserpin
• Percentage of Naive T Cells Increased
• Partial Syndactyly of Fingers and Toes
• Echinococcus Multilocularis
• Glycosylation of Alpha-Dystroglycan Decreased (Muscle Biopsy)
• Liver Biopsy Shows Increased Lipid Droplets and Abnormal Mitochondria
• Acute Macro- and Microvesicular Steatosis
• Favorable Response to Ephedrine Treatment
• Necrotic Epidermolysis
• Paroxysmal Activity - Sharp-Waves
• Absence of Emerin by Immunohistochemistry on Muscle Biopsy
• Expressive Speech Absent
• Mitochondrial DNA Deletion
• Large Ears (37%)
• Collins Bodies in Neurons of the Cerebral Cortex
• Percentage of Naive B Cells Increased
• Frontotemporal Leukoencephalopathy
• Ovoid Granulocyte Nuclei (Homozygotes)
• Multiple Liver Cysts
• Craniosynostosis - Coronal with or without Sagittal Suture
• Blistering Erythematous Rash
• Hypoplastic Left Ventricular Outlet
• Neurologic Sequelae Not Always Present
• Paroxysmal Activity - Sharp-Waves Bilaterally
• Myopathy with Type 1 Fiber Atrophy on Muscle Biopsy
• Cytochrome C Oxidase Decreased (Biopsy)
• Progressive Mild Sensorineural Hearing Loss
• Broad, Deep Philtrum (43%)
• Mitochondrial Morphology Normal
• Ringed Sideroblasts on Bone Marrow Examination
• Visuospatial Skills Impaired
• Memory T Cells Decreased
• Pale Blond to Light Brown
• Epiphyseal Stippling Is Gone by 8 Months of Age
• Glutamine in Bodily Fluids Decreased
• Kerley Lines
• Other Half Show Head Circumference More Retarded than Height
• Double Subaortic Ventricular Defect
• Short Metacarpals (Homozygotes)
• Paroxysmal Activity - Spikes Frontal Right
• Atrial Abnormalities on Electrocardiogram
• Neural Tube Defects (4%)
• Expression of the VDAC1 Protein Decreased
• Most Patients Wheelchair-Bound from 2nd-4th Decade of Life
• Lack of Excessive Parenchymal Iron Storage
• Death Usually by Age 2 Years
• Myopathic and Neurogenic Changes Seen on EMG
• Small Vertebrae
• 2nd Metacarpal Exostosis
• Severe Ketoacidosis
• Small Smooth Cerebellum
• Mutation in the ATR Gene
• Impaired Exercise Tolerance
• Tendency to Walk on Toes
• Hyperekplexia
• Homozygous Polydactyly
• Rhythmic Slowing Occipital
• Respiratory Oxidation Impaired (Skeletal Muscle Biopsy)
• Mutation in the SGCB Gene
• Free Erythrocyte Protoporphyrin Increased
• Structural Inner Ear Abnormalities
• Liver Biopsy Shows Increased Lipid Droplets
• One Family Has Been Reported (last Curated: September 2014)
• Total Cutaneous Webbing
• Blue Eyes
• Episodes Brought on by Fasting or Infection
• Attenuated Gyri
• Sister Chromatid Exchange Increased