45001 to 45100 most common queries

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

• Susceptibility to Infections Starts in the First Week of Life
• Abnormal Tarsals
• Preaxial Polysyndactyly
• Increased Risk of Malignancy
• Mutation in the FARS2 Gene
• Usually More Severe Phenotype in Autosomal Recessive Cases
• Mutation in the PRKDC Gene
• Toenail Dystrophy Most Severe in Nails of Great Toes
• Pseudohydrocephalic Appearance
• Ankle-Brachial-Index Abnormal
• Bowing of Distal Radii and Ulnae
• Onset within First 3 Months of Life
• Lower Limbs Muscle Weakness during Exercise
• Present but Small Tonsils
• Arteriosclerotic Changes in Small Cerebral Arteries
• Small Anterior Fossa
• Anterior Cranium Bifidum
• Single Interphalangeal Joint
• Small Teeth (Classic Feature)
• Symptoms May be Exacerbated by Pregnancy or Trauma
• Coarse Retinal Pigmentation
• Postaxial Polysyndactyly
• Reabsorption of Capital Femoral Epiphyses
• Tick Bite
• Pinched, Thin Nose
• Preservation of U Fibers
• Partial or Total Asymmetry
• Hypoplastic Mandible
• Absent Antibody Production
• Mutation in the IGHMBP2 Gene
• Migrating Focal or Multifocal Origin
• Finger Mobility Decreased
• Thin Long Eyebrows
• Onset of Symptoms in Second or Third Decade
• Increased Glycogen Content
• Deterioration of Motor Development
• Nasolacrimal Duct Obstruction (Classic Feature)
• Bidirectional Tachycardia
• Reduced Pancreatic Beta Cells
• Ventilator Dependence with Inability to Wean
• Small Head
• Block of B Cell Differentiation
• Severe Enteroviral Infections
• Lateral Asymmetry
• Subcortical Focal Lacunae
• Myoglobinuria Particularly after Physical Exertion
• Progressive Severe Microcephaly
• Aplastic or Hypoplastic Fingernails
• H-Shaped Chin Creases
• Sparse Eyelashes (Classic Feature)
• Five Reported Patients as of July 2009 - All Boys
• Enlarged Hepatocytes
• Decreased Length of Clivis
• Anarthria
• Intrauterine Growth Retardation (Less Than 10th Percentile)
• Coccidioides Immitis
• Hypoplastic Nail
• Diffuse White Matter Abnormalities
• Delayed Onset of Puberty
• Peripheral T Cells Decreased
• Average Female Adult Height 138 cm
• Coagulopathy in Those with Liver Failure
• Microcephaly (Classic Feature)
• Aplasia of the Middle Phalanges of the Fingers
• Short First Digits
• Slope of Tentorium Increased
• Acanthocytes
• Small and Incompletely Fused Muscle Fibers Seen on Biopsy
• Fungal Respiratory Infection
• Eventration of the Right or Both Hemidiaphragms
• See Also Autosomal Dominant Hypophosphatemic Rickets
• Pyramidal Cells Decreased
• Allelic Disorder to Northern Epilepsy
• Stiff Prominent Pinnae
• Hyperbilirubinemia in Those with Liver Failure
• Average Adult Male Height 149.5 cm
• Some Patients Acquire Late Ambulation
• Hypomyelination
• Asymmetric Shortening of Long Bones
• Ocular Melanoma
• Onset in First Days of Life
• Homozygous Patients: Earlier Onset, More Severe Disease
• Decreased Height of Supraocciput
• Short Thin Fibulae
• Excessive Sweating due to Autonomic Involvement
• Usually Men Have More Severe Disease than Women
• Possibly Growth Hormone Deficiency
• Cortical Degeneration
• Most Patients Lose Ambulation 2 Years after Onset
• Coarse Dry Scalp Hair
• Renal Hypoplasia
• Compression of Cerebellar Cisterns
• Clostridium Difficile Toxin in Stool
• Lateral Bowing Distal Tibiae
• Vertebral Artery Dissection
• Caused by Mutation in the Wolframin Gene (WFS1)
• Urine Fumaric Acid Increased
• Reduced or Extinguished Electroretinography Responses
• Small Hippocampi
• Pain Perception Decreased