39601 to 39700 most common queries

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

• Pronounced Coxa Plana
• Based on 1 Reported Patient
• Mutation in the Aldolase A Fructose Bisphosphatase Gene
• Onset of Thrombocytopenia in Early Childhood
• Possibly Later Onset of Hearing Loss
• Growth Hormone Secretion Decreased
• Limited Extraocular Movement
• Skin Biopsy Shows Noncaseating Granulomas
• Calcinosis of the Renal Parenchyma
• Hyperchloridura
• Length of Attack: 3-7 Days
• Caused by Mutation in the AARF Domain Containing Kinase 3 Gene
• Onset 30-40 Years of Age
• Disorder of Digit
• Irregular Greater Trochanteric Epiphyses
• Distal Weakness Occurs Later
• Mutation in the ETV Gene
• Normal Red Cell Osmotic Fragility
• Erythrocyte Adenosine Deaminase Activity Elevated
• Favorable Response to Spironolactone
• Retinitis Pigmentosa Sector Type
• No Hematuria
• Renal Tubular Phosphate Excretion Decreased
• Acromegaloid Features
• Nephrocalcinosis Is Absent
• Caused by Mutation in the Hamartin Gene (TSC1)
• Cardiac Catheterization showing Shunts
• Proximal Weakness Occurs First
• Onset of Symptoms Less than One Year
• High Prevalence Among French Canadians
• Irregular Proximal Epiphyseal Line of Femur
• No Response to L-Dopa Treatment
• Susceptibility to Hematologic Malignancies Increased
• Slowly Healing Wounds due to Painless Injuries
• Long Halluces
• Onset Usually in Infancy or Childhood
• Defect in Conversion of Urocanic Acid to Formiminoglutamic Acid
• Profound Sensorineural Deafness
• Bone Abnormalities Improve with Age
• Basement Membrane Altered
• Mild Upper Limb Spasticity
• Onset of Dystonia at 12 Years
• Eruptions
• Caused by Mutation in the Methionyl-tRNA Synthetase 2 Gene
• Atrophy and Weakness of Limb Musculature
• Heart Murmur
• Mutation in the INS Gene
• No Tremor
• Proximal Implantation of Thumb
• Episodic Aggression or Exaggerated Affection Seeking
• Urine Cortisol : Cortisone Ratio Increased
• Caused by Mutation in the Mage-Like 2 Gene
• Renal Tubular Cell Atrophy
• Genetic Heterogeneity - See APMR1
• Widened Proximal Femoral Metaphyses
• Absence of Epiphyseal Ossification of the Knees
• Mutation in the Beta Actin Gene
• Pontine Dysraphia
• Mutation in the Kinesin Family Member 1C Gene
• Erythrocyte Sedimentation Rate Increased (Mean: 90 mm/h)
• Mutation in the Mitochondrial Complex I Subunit ND4 Gene
• Slowly Progressive Dysarthria
• Normal Response to Exogenously Administered Insulin
• Ultrastructural Neuronal Ceroid Lipofuscinosis in Only One Family
• Straight Mouth
• Chronic Relapsing Condition
• Partial Thromboplastin Time Increased
• Environmental Triggers - Cold and Wet Exposure
• Kidney Failure if Untreated
• Hyperphagia, Later
• Median Age at Onset of Renal Failure: 19 Years
• Horizontal Acetabula with Medial and Lateral Spurs
• Limited Vision
• May Be Triggered by Increased Practice
• Mitochondrial Complex I Activity Decreased
• Urine Mevalonic Acid Mildly Increased
• Rectilinear Profiles in Cells (Ultrastructural Analysis)
• Hyperproinsulinemia
• Variable Abnormalities
• Prominent Trochanter
• Retrobulbar Venous Varix
• Apocrine Glands Are Secondarily Involved
• Renal Salt Reabsorption Increased
• Facial Nerve Disorder
• No Raynaud Phenomenon
• Excessive Weight Gain after Neonatal Period
• Nasal Width Increased
• Onset of Acne in Adolescence - Persists Into Adulthood
• May Be Progressive
• Small for Age
• Granular Osmiophilic Cytoplasmic Deposits in Cells
• Onset Usually at Birth but May Occur Later
• Variable Neuroradiologic Findings
• Lymphadenopathy - Cervical Inguinal Axillary
• Diagnosis in Early Childhood
• Narrow Short Femoral Neck
• Necrotic Tissue Encapsulated by Epithelial Strands
• Creatine Kinase in Patients with Muscle Involvement Increased
• Lumbar Puncture Abnormal
• Speech Articulation Defects