38601 to 38700 most common queries

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

• Forked Metatarsal
• Fluid-Filled Vesicles on Scalp and Skin, Diameter <1 cm
• Interrupted Aortic Arch
• Prolonged Bleeding Time - 15 to > 30 Minutes
• Cataplexy Paroxysmal Weakness or Paralysis
• Gradual Progression
• Distal Muscle Weakness and Atrophy - Upper and Lower Limbs
• Multiple Cavitary Lung Lesions
• Small Hemorrhagic Blisters on Hands
• Persistently Open Mouth
• Long Maxillary Central Incisors
• Left-Sided Renal Agenesis
• Adiposis (MRI)
• Decreased Activities of Mitochondrial Complexes I, II, and III
• Brachydactyly (More Severe Than in Hands)
• Severe Enterocolitis in the First Year of Life
• Skewed X-Inactivation in Females
• Absent Cone Responses on Electroretinography
• Median Platelet Volume 15.5 fl
• Hypoplasia of the Tibia
• Spastic or Hyperactive Bladder
• Wheelchair-Bound at Age 20-30 Years
• Hyperexcitability of Peripheral Nerve Fibers
• Chronic Cough
• Short, Depressed Nose
• Skin Fragility with Non-Scarring Blistering
• Female Carriers May Show Mild Learning Disabilities
• Lipid Accumulation in Muscle Tissue
• Often Death in Adolescence
• Proximal Weakness Upper Extremities
• Myogenic Profile on Electromyography
• Pain Response Decreased
• Oral Frenula
• Parathyroid Hormone Normal (Female)
• Platelet Count Low to Normal (45*10^9/l)
• Somatosensory Evoked Potentials Decreased
• Rarely Calf Pseudohypertrophy
• Mutation in the Renin Gene
• Granulomatous Lymphangitis (Eyelid Biopsy)
• Abnormal Positioning of the Thumbs
• Impaired Gait due to Peripheral Neuropathy
• Early Death without Bone Marrow Transplantation
• Life Expectancy Decreased
• Lack of Neurologic Development
• May Have Seasonal Variance in Severity
• Contractures of Upper Limbs
• Mutation in the Phospholipase A2 Group VI Gene
• Normal Muscle Strength
• No Neutrophilic Inclusions
• Calcium Normal (Female)
• Mean Age of Onset 30 Years
• Visual Symptoms Present by Late Childhood
• Urine Uromodulin Decreased or Absent
• Periorbital Heterogeneous Thickening on CT Scan
• Mutation in the MYH11 Gene
• Mutation in the Homolog of the S Cerevisiae ALG13 Gene
• Impaired Response to Immune Stimulation
• Lung Biopsy Abnormal
• Contractures of Distal Lower Limbs
• This Patient Died at Age 8 Months
• Diminished Social Interaction
• Hypokinetic Movements
• Onset of Blistering and Pigmentary Changes in Childhood
• Small Toenails in Males
• Neuropsychologic Impairment
• Variable Bleeding Tendencies
• Aplasia or Atrophy of the Dilatator Pupillae Muscle
• Focal Tubular Dystrophy
• Tubular Aggregates in Type 2 Skeletal Muscle Fibers
• Insidious Painless Nonpitting Eyelid Edema
• Phenotypic Overlap with Desbuquois Dysplasia
• Poor Differentiation and Proliferation of B and T Cells
• Peripheral Vascular Occlusive Disease
• Rib Tenderness
• Bilateral Signals in the Basal Ganglia
• Contiguous Gene Syndrome Involving Deletion of 2.63 Mb on 5q12
• Flat Feet (Female)
• Lewy Bodies in the Substantia Nigra
• Very Rarely Retinal, Hepatic, Pancreatic, and Renal Anomalies
• Leukocyte Inclusion Bodies - Dohle-Like Bodies
• Basal Cell Layer Contains Clumped Keratin Filaments
• Nonreactive Fixed Narrowing of the Pupil
• Parathyroid Hormone-Related Peptide Low to Absent
• Lysine, Glutamic Acid, and Glutamine Decreased
• Slowly Progressive Renal Failure
• Absence of Several Ribs
• Flexible Flat Feet
• Circulating T and B Cells Are Naive
• Pleurisy with Effusion
• Intracranial Carotid Aneurysm
• Early-Onset Deafness
• Thoracic Abnormalities Tend to Improve with Age
• Cortical Thickening of Metacarpals in Females
• Thyroid Hormone Deficiency
• Death Usually within First Weeks of Life
• Parathyroid Hormone Absent to Low
• Rarely Onset at Age >30 Years
• Median Mean Platelet Volume 18fl
• Punctate Palmoplantar Hyperkeratosis
• Caused by Mutation in the Tolloid-Like 1 Gene