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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