39201 to 39300 most common queries

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

• Mutations in the DNA Polymerase Gamma Gene
• Thin Nose
• Renal Insufficiency (in 2 of 3 Siblings)
• Reported in Individuals of French Canadian Origin
• Percentages Based on 51 Published Cases (PMID 24891339)
• Peripheral Nerve Compression
• Highly Variable Pathologic Phenotype
• Progressive Permanent Flexion Limitation of Toes
• Absent Optic Nerve Head
• Protruding Shoulders
• Mutation in the Homeobox A13 Gene
• Focal Dystonia
• Distorted Primary Molars
• Axillary Sweating
• Severity of Skin Symptoms Varies within Families
• Absence of the Vas Deferens and Epididymis
• Duplication of 120-527 kb on 17p13.3
• Constricted Visual Fields - Occurs Second
• Rhabdomyolysis in Response to Alcohol
• Progressive Permanent Flexion Limitation of Fingers
• Intraalveolar Accumulation of Abnormal Pro-SPC Protein
• Brain MRI Shows Molar Tooth Sign
• Absence of Premature Birth, Low Birthweight, and Exposure to Oxygen
• 10% due to Paternal Deletion
• Commonly End-Stage Renal Disease Requiring Kidney Transplantation
• Fused Cuneiforms
• See Also PGL1
• Moderate Intellectual Disability
• Seizures with Tetany
• Decreased or Absent Mature Surfactant C Protein
• Cataracts (Late Symptom)
• Hyporeflexia in Affected Muscles
• Clubbing of Nails
• Reduced Central Vision (Occurs Last)
• Androgens Decreased
• Hypothyroidism (in 1/3 Siblings)
• Caused by Mutation in the Frizzled Receptor 4 Gene
• Syndactyly Third and Fourth Digits
• Intracranial Thrombosis
• Mutation in the PAX2 Gene
• 12% due to Epimutation
• Autoimmune Polychondritis
• Cells of Origin Pertain to the Diffuse Neuroendocrine System
• Onset of Bone Fragility in Childhood
• Longitudinal Vaginal Septum
• Gastrointestinal Pseudoobstruction
• Normal Cochlear Microphonics
• Testosterone Decreased
• Electron-Lucent Vacuoles Possibly Containing Smaller Vesicles
• Asymmetric Brain Development
• Areas of Fibrosis May Develop with Longer Disease Duration
• Onset of Linear Striations between 5 Months and 6 Years
• Partial - Total Retinal Detachment
• Caused by Imprinting Defect on Chromosome 14q32
• Mutations in the LRP5 Gene
• Mildly Decreased Proliferative Responses of T Cells
• Anomalous Renal Pelvis
• Mutations in the SDHC Gene
• Distal Femoral Bifurcation
• Lack of Normal Lumbar Interpediculate Flare
• Transient Metabolic Acidosis that Resolves in Infancy
• Secondary Sexual Characteristics Decreased
• Normal Otoacoustic Emissions
• Vesicular Complexes in the Stratum corneum
• Spatulate Distal Phalanges
• Nonspecific Cellular Interstitial Pneumonitis
• Vitreoretinal Traction
• Knee Pain
• Long Bone Deformities
• High-Pitched Nasal Speech
• Renal Malrotation
• Autoantibodies (Antinuclear, Anti-dsDNA, Anti Cardiolipin)
• Maxillonasal Hypoplasia
• 4-Hydroxycyclohexylacetic Aciduria (Adults)
• Tibial Aplasia or Hypoplasia
• Hoarse Voice Caused by Tumor Impingement
• Lamellae in Stratum Corneum with Few or Minimal Lipid Droplets
• Polymicrogyria - Predominantly Frontal and Perisylvian
• Premature Menopause
• Normal Outer Hair Cell Functions
• Duplicate Phalanges
• Small Feet (96%)
• Most Affected Infants Die in the First Month of Life
• Hip Pain
• Dentition Delayed
• Narrow Diaphyses
• Fever Episodes Last from 3 to 10 Days
• CD21+ B Cells Increased
• Facial Dysostosis
• Onset in Infancy up to 3 Years
• Palpitations with Pheochromocytoma
• 4-Hydroxyphenylactic Aciduria
• Dysplasia of the Cerebellar Hemispheres
• May Occur Cormorbidly with Poland Syndrome
• Abnormal Amplitude Modulation Detection
• Larger, Brownish Scaling on Neck, Buttocks, and Legs
• Osteopathia Striata
• Megaloblepharon (Large Eyelids)
• Joint Contractures (8%)
• Occurs in Full Term Infants