35601 to 35700 most common queries

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

• Heart Rate Irregular
• Stimulation Sensitive Generalized Myoclonus
• Small, Flat Epiphyses
• Numbers of Motile Cilia in Respiratory Epithelial Cells Decreased
• Irregular Scapulae
• Loss of Myelinated Fibers in Spinal Cord Roots
• Hallucal Symphalangism
• Speckled Corneal Dystrophy
• Brain Iron Accumulation in the Basal Ganglia
• Horizontal Gaze Nystagmus
• Constricting Bands around Extremities at Birth
• Incidental Laboratory Finding, No Clinical Symptoms
• Onset in Neonatal Period or before Age 2 Years
• Asthenoteratozoospermia
• Jejunal Endoscopy Shows White Epithelium
• Stimulation-Sensitive Segmental Myoclonus (Stage 2)
• Progressive Arthropathy
• Seizures Tend to Become More Focal with Age
• Bulbar Symptoms May Occur
• Small Narrow Chest
• Aplasia or Hypoplasia of Halluces
• Mutation in the Ubiquinol Cytochrome C Reductase Protein Gene
• Platelets Have Increased Expression of CD34
• Hoarse Voice due to Vocal Cord Paresis
• Absent Peripapillary Choriocapillaris
• One Family Reported (as of 2009)
• Normochromic Anemia
• Severe Ectropion
• Hearing Loss Progressive
• Neurologic Deficits May Occur Secondary to Malabsorption
• Teratozoospermia
• Mutation in the HCN1 Gene
• Polyspike on Photic Stimulation
• Childhood-Onset Arthralgias
• Anterior Commissure Not Evident
• Tracheobronchial Malacia
• Lactate Increased during Metabolic Crisis
• Homozygotes Have Earlier Onset and a more Severe Disorder
• Fifth Finger Symphalangism
• Occasional Onion Bulb Formations
• Hypesthetic Cornea
• Alpha Fetoprotein Increased
• Mutation in the TUBB1 Gene
• Rudimentary
• Soft Tissue or Tendinous Calcinosis May Occur
• One Patient Died at 17 Months of Age
• Most Cases due to De Novo Mutation
• Chronic Denervation Seen on Skeletal Muscle Biopsy
• Short, Broad Nails
• Genu Valgum (present at 1 Year)
• Subclinical Axonal Neuropathy
• See Also the Lethal Neonatal and Infantile Forms
• Severe Neurodegenerative Course Resulting in a Comatose State or Death
• High Incidence in Sweden and Finland
• Aplasia or Hypoplasia of Middle Phalanges of 2nd and 5th Fingers
• Decreased Number of Myelinated Fibers
• Beta Tubulin in Platelets Decreased
• Lipid Vacuoles in Corneocytes
• Lung Infiltration
• Low Weight < 3rd Percentile
• Mutation in the DGAT1 Gene
• Mutation in the ATP1A3 Gene
• Early Death May Occur
• Distal Skeletal Muscle Atrophy (Late Symptom)
• Fixed Elbow Flexion from Birth
• Hair Loss Begins in First Years of Life
• Short Phalanges - Especially Distal Phalanges
• Heterozygous CPT2 Mutation Carriers Possibly Symptomatic
• Severe Distal Sensory Loss
• Rapidly Progressive Episodes
• Adult Onset - Range 40-60 Years
• Complete Syndactyly/Synostosis of 3rd and 4th Fingers
• Large Spherical Platelets
• Broad Stratum Granulosum
• No Evidence of Intrauterine Infection in Mother or Newborn
• Total Cholesterol Elevated - Seen in Heterozygotes As Well
• Interictal Neurologic Impairment
• Fasciculations (Late Symptom)
• Progressive Intervertebral Space Narrowing
• Sclerotic Calvarium
• Eye Irritation
• Recurrent Acute Secretory Diarrhea
• Rare Axonal Regeneration
• Triggered by Exercise Fasting or other Metabolic Stresses
• Myopathic Changes Seen Muscle Biopsy
• Onset: Late Infancy to Adulthood
• Macrothrombocytopenia
• Cholesterol Clefts in Thickened Stratum Corneum
• Four Fingers on Each Hand
• Short, Broad Tibiae and Fibulae
• Bitemporal Grooving
• Autonomic Involvement
• Parenteral Nutritional Support Required
• Progressive Endplate Irregularity
• Bony Paranasal Bossing that Often Regresses with Age
• Dystrophy of Free Margin of Fingernails
• Measle-Like Rash
• Urinary Hypoxanthine Increased
• Weakness of the Anterior Tibial Muscle and Toe Extensors
• Onset in Adolescence or Adulthood