21901 to 22000 most common queries

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

• Hypokalemia Related Muscle Weakness
• Amount and Activity of Mitochondrial Complexes I and IV Decreased
• Defective Oxidative Phosphorylation in Fibroblasts
• Lip Protrusion
• Oromotor Difficulties
• Severely Delayed Speech Development
• Corneal Diameter Decreases with Decreasing Axial Length
• Corneal Steepening Proportional to the Degree of Axial Foreshortening
• Spontaneous Hyphema
• Optic Nerve Excavation
• Thinning of Central Cornea
• Shallow Anterior Chamber and Angle
• Ventricular Repolarization Abnormalities
• Short Broad Columella
• Sensorimotor Polyneuropathy
• Cerebellar Atrophy Progressive
• Risk of Developing Early Onset Aggressive Cancers Increased
• Small Cell Carcinoma of the Ovary of Hypercalcemic Type
• Mutation in the WDR72 Gene
• Variable Malocclusions
• Teeth Sensitive to Thermal and Physical Stimuli
• Enamel Layer Shows Reduced Radiodensity
• Rough Enamel
• Posteruptive Loss of Surface Enamel
• Creamy Enamel at Time of Eruption
• Opaque Enamel at Time of Eruption
• Left Ventricular Systolic Dysfunction
• Left Ventricular Wall Motion Abnormalities
• Dilated Aortic Root
• Mutation in the SCN3B Gene
• Brugada Pattern on Electrocardiography
• Sparse, Androgenic Hair
• Hypergonadotropic Hypogonadism
• Relative or Absolute Central Scotoma
• Bilateral Reduced Visual Acuity
• Progressive Mild Sensorineural Hearing Loss
• Sensory Motor Axonal Neuropathy
• Myopathic and Neurogenic Changes Seen on EMG
• Chronic Denervation
• Psychiatric Abnormalities
• Temporo-Occipital Polymicrogyria
• Cutaneous Folliculitis
• Caused by Mutation in the Matrix Metalloproteinase 20 Gene
• 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
• Pontine Atrophy
• Cerebellar Atrophy - Particularly of the Hemispheres
• Hyperkinetic Involuntary Movements
• Risk of Thromboembolic Stroke
• QTc Interval Prolonged
• Paroxysmal or Persistent Atrial Fibrillation
• Seizures Are Fever-Sensitive
• Focal Dyscognitive Seizures
• 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
• Bronchial Telangiectasia
• Progressive Pulmonary Failure
• Defect in Double-Stranded DNA Repair
• IgA IgG and IgM Variably Decreased
• Ocular Telangiectasia
• 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
• Thick Vermilion Border of the Lips
• 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
• Muscle Fatigability
• Intrafamilial Phenotypic Variability