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39501 to 39600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Normal B-Cell (CD19+) Count
Impaired Ig Class Switch Recombination
IgG and IgA Low
Major Fluid Shifts May Occur in Severe Cases
Ovaries Return to Normal Size after Delivery
Enlarged Multilocular Ovaries
Zinc Deficiency in Breastfed Offspring Resolves after Weaning
Breastfed Offspring Have Transient Decrease of Plasma Zinc Levels
Breast Milk Zinc Decreased
Balanced Translocation T-12-22: p11.2 - q13.3
Translocation Disrupting the FBLN1 Gene
Metatarsal Synostosis (3rd and 4th Digits)
Syndactyly (2nd, 3rd and 4th Digits)
Bilateral, Symmetric Malformations
Metacarpal Synostosis (4th and 5th Digits)
Synpolydactyly (3rd or 4th Digits)
Syndactyly (often 3rd and 4th Digits)
Recurrent Bacterial Infections Beginning in Childhood
No Opportunistic Infections
Mean Age at Diagnosis Is 8.8 Years
Low to Absent IgG IgA IgE
Occurs Most Often in Developing Countries in Tropical Regions
Median Age at Onset Is 21 Years
Mutation in the SPINK1 Gene
Increased Risk of Pancreatic Cancer
Intraductal Calculi Especially in the Caput
Recurrent Abdominal Pain Since Childhood
Insulin-Dependent but Ketosis-Resistant Diabetes
Incidence of Fibrocalculous Pancreatic Diabetes Increased
No Neurologic Sequelae
Seizures Usually Remit Spontaneously by 12 Months of Age
Compression Deformities of the Spine
Prominent Widely-Spaced Incisors
Rapid-Onset Cataracts
Peripheral Hypertonia
Usually Clinically Asymptomatic
Nerve Biopsy May Show Demyelination and Remyelination
Non-Progressive Deafness
Profound Sensorineural Prelingual Deafness
Cognitive Deficits May Occur
Delayed Development May Occur
No History of Familial Hypercholesterolemia
No Childhood Hypertension
ECG Pattern Consistent With Acute MI
Chest Pain Lasts More than 30 Minutes
>70% Stenosis (Coronary Angiogram)
History of Coronary Artery Bypass Grafting
History of Percutaneous Transluminal Coronary Angioplasty
No Congenital Heart Defect
No Insulin Dependent Diabetes Mellitus
Begins in Feet and Legs
Possibly Foot Deformities
No Onion Bulb Formations
Nerve Fiber Density and Thickness Decreased
Axonal Regeneration on Nerve Biopsy
Low to Normal Range of Nerve Conduction Velocity
Cardiac Anomalies (13%)
Thick Skin (74%)
Microspherophakia (74%)
Muscular Build
Adult Female Height 130-157cm
Adult Male Height 142 - 169 cm
Onset in Early Childhood, 2-4 Years
Occasional Early 'Onion' Bulb Formations
Thin Myelination
Regenerating Axons
Nerve Conduction Velocities Vary from Normal to Decreased
EMG Shows Neuropathic Changes
Clumsy Gait
Normal Early Motor Milestones
Intrafamilial Phenotypic Variation May Occur
Visual Acuity Is Normal
Nystagmus Decreases on Convergence
Frequency 6 Hz In Lateral Gaze
Frequency 3.5 Hz in Midline
Small Rotary Component May be Present
Jerky, Horizontal, Congenital Nystagmus
Non-Progressive and More Severe Progressive Forms
Clinical Variability
Onset Ranges from Childhood to Adulthood
No Hypertrophic Cardiomyopathy
Vital Capacity Due to Muscle Weakness Reduced
Positive for ATPase Activity at pH=4.3
Type 1 Fibers with Inclusions Containing MYH7 Protein Aggregates
Subsarcolemmal Hyaline Bodies in Type 1 Fibers Only
Muscle Biopsy Shows Type 1 Fiber Predominance
EMG Shows Myopathy
Generalized Proximal and Distal Muscle Weakness
Scapuloperoneal Amyotrophy
Neurogenic Scapuloperoneal Syndrome
Caused by Mutation in the Aggrecan 1 Gene
Progressive Osteoarthropathy (Early Onset)
Sclerotic Vertebral Bodies
End-Plate Irregularities
Anterior Osteophytes
Stocky Body Habitus
Proportionate Short Stature (<5th Percentile)
Multiple Retinal Holes
Ocular Axial Length Increased
Bilateral High Grade Myopia