38001 to 38100 most common queries

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

• Dendritic Cell Cytopenia
• Mutation in the IYD Gene
• Sustained or Nonsustained Ventricular Tachycardia
• Occasional Early 'Onion' Bulb Formations
• Only Apparent in Patients Taking Eculizumab
• Growth Arrest at 2-4 Years of Age
• Absent Pupillary Reflexes during Blindness Episodes
• Similar Clinical Features to EDSI but Less Severe
• Hypothermia
• Founder Effect in Gypsy Groups (1267delG)
• Posterior Wall Thickness Increased
• Microcephaly (6 SD)
• Propensity to Tumor Development
• Bilateral Hypoplastic Cochlea
• Death Usually in Infancy due to Respiratory Failure
• Mutation in the CD3 Antigen Epsilon Subunit Gene
• Recurrent Infections, Especially Viruses and Fungi
• Thin Myelination
• Iodine Depletion
• Caused by Mutation in the Keratin 14 Gene
• Adult Height 110-140 cm
• Poor Response to the C5 Inhibitor Eculizumab
• Favorable Response to Acetylcholinesterase Inhibitors
• Transient Blindness Lasting 3 to 10 Seconds
• Periodic Pre- and Postovulation Fever
• NK Cells Normal
• Tyrosine Loss
• Joint Laxity Decreases with Age
• Susceptibility to Myeloid Leukemia
• Clubfoot (in Two Sibs)
• Short, Wide Nose
• Spontaneous Resorption
• Calcium Increased
• Regenerating Axons
• Mutation in the DNM2 Gene
• Bone Fractures - at Birth and Postnatal
• Elicited Repetitive Daily Blindness
• Mutation in the Complement Component 5 Gene
• Facial Dysmorphism is Uncommon
• Chondroitin 4-, 6-Sulfate Excretion in Urine
• Adrenocortical Insufficiency
• Onset of Symptoms in the Fourth to Sixth Decade of Life
• Variable Response to Acetazolamide and Carbamazepine
• Nerve Conduction Velocities Vary from Normal to Decreased
• Susceptibility to Myelodysplasia
• Blindness Episodes Are Not Associated with FHM Episodes
• Variable Expression and Severity
• Denervation of Skeletal Muscles
• Coarse Metachromatic Granules in White Blood Cells
• Prenatal and Postnatal Growth Retardation
• Caused by Mutation in the Anoctamin 5 Gene
• No Scarring
• Arthrogryposis Multiplex in Severe Cases
• Partially Defective Antibody Production
• Continuous Urinary Iodine Loss
• Symptoms Relieved by Serotonin Antagonist
• Some Patients May Develop Interictal Progressive Ataxia
• Beta Glucuronidase Deficiency in Fibroblasts and Leukocytes
• Poverty of Thought
• Old Order Amish and Turkish Patients Reported
• Ventriculo-Atrial Regurgitation
• Low Postnatal Weight
• Neurogenic Atrophy Affecting both Fibers Types (Muscle Biopsy)
• Mutation in the CSF3R Gene
• Caused by Mutation in the FMS-Like Tyrosine Kinase 4 Gene
• EMG Shows Neuropathic Changes
• Muscle Biopsy Shows Disruption of the Sarcolemmal Membrane
• Variably Impaired T Cell Proliferative Responses
• Absence of Acetylcholine Receptor Autoantibodies
• Symptoms Relieved by Progesterone Antagonist
• Death Usually before 5th Decade
• Rapid, High Radioactive Iodine Uptake and Turnover
• Mutation in the Amelogenin Gene
• Variable Degree of Corneal Opacities
• Severe to Profound Congenital Sensorineural Hearing Loss
• Posterior Fossa Malformations
• Seizures Are Sensitive to Hyperventilation
• Segmented Neutrophils or Band Cells Account for More than 70%
• Papillomatosis over Edematous Areas
• Chelation Therapy Can Result in Clinical Improvement
• Normal Early Motor Milestones
• Suicide Attempt
• Symptoms Relieved by Ovarian Suppression
• Skin Changes Worse in Areas of Lower Skin Temperature
• Muscle Biopsy Shows Fiber Atrophy Type 2
• Thyroglobulin Absent or Abnormal
• Absence of Atrial Wall Movement on Fluoroscopy
• One Family Reported
• Flaring of Lower Ribs
• Partial Factor XIIIC Deficiency
• Onset of Seizures at Age 7-12 Years
• Normal Dentin
• Learning and Developmental Delay
• Mutation in the SLC30A10 Gene
• Hyperkeratosis over Edematous Areas
• Pachymacrogyria
• Intrafamilial Phenotypic Variation May Occur
• Absent-Mild Skin Hyperextensibility
• Methamphetamine Abuse
• Mutation in the HTR1A Gene