35101 to 35200 most common queries

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

• Development Delayed if Untreated
• Only Women Have Been Reported
• Dysferlin Staining Decreased or Absent (Muscle Biopsy)
• Optic Tract Agenesis
• Possibly Infantile Onset
• Mutation in the Adenylate Cyclase 5 Gene
• Mutation in the FGF14 Gene
• Distal Muscle Atrophy - Predominantly Lower Limbs
• Isolated Mitochondrial Complex IV Deficiency Seen on Biopsy
• S-Curve Scoliosis of Thoracic and Lumbar Spine
• Urine Free Cortisol Increased
• Relatively Mild Course
• Multiple Arterial Stenoses
• See Also Erythrocytosis Type 1
• Mutation in the APP Gene
• Notable Friendly Behavior
• Medullated and Pigmented Hair Follicles
• Acanthosis Nigricans in Patients with Diabetes
• Muscle Biopsy May Show Inflammatory Changes
• Mostly Onset in Early Childhood after Normal Development
• Attack Frequency: Once/Year to Several/Week
• Quadricuspid Aortic Valve
• One Consanguineous Family Has Been Reported - Last Curated May 2013
• Deep White Matter Changes
• Vertebral Fractures
• Poor Cognition
• Ulnar Hand Deviation
• Dopa-Unresponsive
• Oxygen Affinity of Hemoglobin Normal
• Variable Expressivity in Families
• Ataxia is Slowly Progressive
• Multiple Arterial Aneurysms
• Total Cholesterol Increased
• Onset in Infancy after Weaning
• Wide Phenotypic Variability and Severity
• Urethral Prolapse
• Normal T Cells
• Acute Attacks Lasting 24 to 48 Hours
• Delayed Development in Early Childhood
• Tremor Exacerbated by Stress and Exercise
• Increased Red Blood Cell Mass
• Osteoporosis Borderline
• May Progress to Other Body Regions after Many Years
• Sparing of Anterior Tibialis Muscle
• 40% of Patients Have Associated Abnormalities
• Lipoproteins Increased
• Thickened Myocardium
• Mutation in the Fructose Bisphosphate Aldolase B Gene
• Mutation in the ELOVL4 Gene
• Variable Neuropsychiatric Manifestations
• Single Kidney
• Arrest of B-Cell Development at Very Early Stage
• Caused by Mutations in the Pyrin Gene
• Tremor - Small Amplitude High Frequency - Restricted to the Hands
• Mutation in the RASGRP2 Gene
• Thumb Absence
• Gastrocnemius and Soleus Muscles Most Affected
• Facial and Neck Adipose Tissue Normal or Increased
• Age at Diagnosis 2-4 Months
• Erythropoietin Normal
• Average Age at Onset: 15 Years (Range: 4-40 Years)
• Mild Axonal Peripheral Neuropathy
• Severe Underdevelopment of Elastic Fibers
• Mutation in the ECM1 Gene
• Absent Dental Caries
• No Hearing Impairment
• Impaired Platelet Aggregation and Spreading
• Mutation in the IL21R Gene
• Mild Joint Contractures
• Prominent Leukocytosis (30,000/ml)
• Hypoplastic Testicle
• Two Families Reported - Last Curated September 2012
• Caused by Mutation in the Ribosomal Protein S19 Gene
• Subcutaneous Truncal Adipose Tissue Increased
• Vascularization Increased in Upper Dermis
• Muscle Wasting in Lower Limbs
• Mild Spasticity
• Excessive Postsurgical Blood Loss
• Upper Limb Dystonia
• Hoarse Voice due to Laryngeal Infiltration
• Delayed Gross Motor Development
• Difficulty Walking, Running, Climbing Stairs
• Most Patients Present with Anemia in Infancy
• Mucocutaneous Bleeding due to Platelet Dysfunction
• F Syndrome Has Many Overlapping Features
• Testicular Cyst
• Cytokine Defects
• Loss of Gluteal Adipose Tissue
• Shortened Radii and Ulnae
• Excessive Posttraumatic Blood Loss
• Hypoesthesia Over Affected Areas
• Myeloid to Erythroid Ratio Increased - 10:1 to 200:1
• Small Collagen Bundles
• Rapid, Jerky Movements
• Heel Standing Preserved
• Premature Loss of Enamel
• Based on Report of 2 Sisters
• Genetic Heterogeneity (See CMT4A)
• Anemia Is Responsive to Corticosteroid Treatment
• Cutaneous Syndactyly of All Toes