18201 to 18300 most common queries

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

• Cutaneous Folliculitis
• Caused by Mutation in the Matrix Metalloproteinase 20 Gene
• Anterior Open Bite
• Thin Enamel Layer
• Yellowish Brown Enamel
• Basal Ganglia Atrophy
• Usually Death in Early Childhood
• Lack of Visual Fixation
• Microcephaly Progressive (up to 11 Sd)
• Gyral Pattern Simplified
• Dragonfly Pattern on Imaging
• Cerebellar Atrophy - Particularly of the Hemispheres
• Hyperkinetic Involuntary Movements
• QTc Interval Prolonged
• Paroxysmal or Persistent Atrial Fibrillation
• Endocrine Defects Evolve over Time
• Lack of Growth Hormone Response to Stimulation
• Insulin-Like Growth Factor 1 Concentration Low
• Fine Motor Task Disruption
• Bleeding Tendency Not Increased
• Normal Platelet Size and Morphology
• Mutation in the RNF168 Gene
• Progressive Pulmonary Failure
• Defect in Double-Stranded DNA Repair
• IgA IgG and IgM Variably Decreased
• Mildly Impaired Motor Control
• Risk of Sudden Death with Exertion
• Mutation in the SCN4B Gene
• Intermittent Atrioventricular Node Block 2:1
• Late Onset T-Wave
• Long Isoelectric ST Segment
• Prolongation of Corrected QT Interval
• Mutation in the KCNH1 Gene
• Hypoplastic or Aplastic Nails of Halluces
• Hypoplastic or Aplastic Thumb Nails
• Central Translucency of Distal Phalanges of Halluces
• Episodes Last 2-7 Days
• Episodes Are Triggered by Cold Exposure
• Mutations in the NLR Family Pyrin Domain Containing Protein 12 Gene
• Episodic Rash
• C-Reactive Protein May Be Increased
• Episodic Aphthous Ulcers
• Risk of Sudden Death in Childhood due to Cardiac Arrest
• Mutation in the GYS1 Gene
• Lack of Glycogen in Cardiomyocytes
• Myocyte Hypertrophy without Disarray or Fibrosis Seen on Biopsy
• Decrease in Stroke Volume on Exercise Testing
• Glycogen Content Normal (Biopsy)
• Predominance of Oxidative Fibers
• Glycogen Deficiency in Muscle Fibers
• Low Maximum Workload on Exercise Testing
• Intrafamilial Phenotypic Variability
• Mutation in the NOBOX Gene
• Primordial or Primary Follicles on Histology
• Absence of Follicles (Histology)
• Reduced or Absent Follicles (Ultrasound)
• Ovaries Small to Normal (Ultrasound)
• Low Anti Mullerian Hormone Level
• Luteinizing Hormone Level Elevated
• Variable Infectious Phenotype
• Mutation in the TYK2 Gene
• Recurrent Skin Abscesses
• Susceptibility to Mycobacteria Bacteria Fungi and Viruses Increased
• Lethal Respiratory Insufficiency at Birth
• Severe Multiple Joint Contractures
• Small or Borderline to Adequate Size for Gestational Age
• Severe Muscle Wasting and Atrophy, Primarily in the Legs
• Trauma May Accelerate Symptoms
• Motor Impairment More Significant than Sensory Impairment
• Adult Onset May Occur
• Caused by Mutation in the Homolog of the S Cerevisiae FIG4 Gene
• De- and Remyelination
• Thinly Myelinated Nerve Fibers
• Nerve Amplitudes Decreased
• Color Vision Abnormalities
• Funnel Shaped Papillomacular Fold
• Macular Reflex Reduced
• Posterior Microphthalmia
• Congenital Septal Defects
• Hunger and Thirst Disturbances
• Symptoms of Hypothalamic Disturbances
• Mutation in the FK506 Binding Protein 10 Gene
• Mutation in the GLI2 Gene
• Mutation in the SYNE1 Gene
• Mutation in the PROK2 Gene
• Synkinesia
• Lateral Deviation of Tibiae
• Mutation in the TSEN54 Gene
• Progressive or Slowly Progressive
• Mutation in the RNASEH2B Gene
• Interferon Alpha Signal Increased
• Intracranial Calcification Affecting the Basal Ganglia
• Cognition Normal
• Progressive Neurologic Dysfunction
• Quadricuspid Pulmonary Valve
• Distal Phalanges Absent
• Caused by Mutation in the Beta-B3 Crystallin Gene
• Cortical Cataract
• Caused by Deletion of 4.06 Mb of Chromosome 14q22.1-q22.3
• Bilateral Pedunculated Postminimi