38201 to 38300 most common queries

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

• See EBN1 for an Autosomal Dominant Form
• Seizures Resolve by 4 Months of Age
• Onset at 6-36 Hours of Life
• Possibly Seizure Disorder Later in Life
• Hypertonia in Neonatal Period
• Parainfluenza Pneumonitis
• Pneumonia - Particularly Pneumocystis Carinii
• Defective (Ca++) Mobilization in T Cells
• Normal Activity of Natural Killer Cells
• Abundant CD4+ T Cells
• Absent CD8+ T Cells
• Number of Circulating Lymphocytes Increased
• Normal Number of Circulating Lymphocytes
• Thin, Wrinkled Skin
• Dimples - Chin Buttocks
• Gracile Diaphyses
• Frequent Illnesses
• Lipoatrophy - Lower Face, Upper Limb, Buttock
• Chin Dimples
• Birth Weight Less than 3rd Percentile
• Mean Life Expectancy: 13 Months
• Urine Free Sialic Acid Increased - 20-200x Normal
• Calcaneal Calcifications
• Albinoid Fundi
• Clear Cornea
• Mild Rib Widening
• Generalized Hirsutism
• Fibroblast Free Sialic Acid Increased
• Urine Free Sialic Acid Increased
• Prevalent in Sweden
• Onset of Neurologic Symptoms Often by Age 30 Months
• Mutations in the ALDH3A2 Gene
• Normal Hair
• Pruritic Ichthyosis
• Sole Thickening
• Palm Thickening
• Glistening White Dots in Fundus
• Shrill Screaming
• Incomplete Lobulation of the Lungs
• Cholesta-5,7-dien-3β-ol Increased
• Short Broad Toes
• Large Central Front Teeth
• Birth Weight < 2500 mg
• Microurethra
• Abnormal Sleep Pattern
• Hypertonia - Childhood
• Mutation in the IGF1R Gene
• Growth Hormone Normal or Increased
• Increased Serum Insulin like Growth Factor 1 (IGF1 147740)
• Fleshy Lower Lip
• Obsessive Tendencies
• Anxious Affect
• Estimated Carrier Frequency in Charlevoix-Saguenay Region is 1/22
• Caused by Mutation in the Sacsin Gene
• Swan Neck Deformities of the Fingers
• Hypermyelinated Retinal Nerve Fibers
• Sensory Nerve Conduction Velocity Decreased
• Distal Amyotrophy, Severe
• Truncal Ataxia Progressive
• Falls Increased
• Walking Development Delayed
• Allelic to Distal Spinal Muscular Atrophy Type 5 but Distinguished by the Presence of Spasticity
• Wasting of the Hands is the First and Most Prominent Manifestation
• Onset of Hand Involvement at 14 to 60 Years
• Onset of Gait Abnormalities at Age 8-40 Years
• Lower-Limb Vibratory Sense Decreased
• Upper Body Involvement
• Onset of Spasticity in Childhood
• Pigmentary Abnormalities Apparent at Birth or in Infancy
• Lentigenes
• Patchy Vitiligo
• Peripheral Neuropathy - Mild in Some
• Severe Spastic Paraplegia
• Allelic Disorder to Spinal Muscular Atrophy Type 1
• Mean Age at Onset 35 Years (range 20 - 60)
• Loss of Vestibular Caloric Response
• Rough Hair
• Abundant Hair
• Mild Palpebral Ptosis
• Nonaxial Myopia
• Metaphyseal Striations
• Mild Mesomelia
• Decreasing Lumbar Vertebrae Interpediculate Distance
• Vertebral Agenesis
• Short Thin Ribs
• Intraabdominal Testes
• Urine Unsulfated Chondroitin Sulfate Increased
• Slightly Short Long Bones
• Proximal Radial Epiphyses Flattened
• Horizontal Acetabular Roof
• Occasional Back Pain
• Lateral Extension of Vertebral Bodies Beyond the Pedicles
• Mild Osteopenia
• Urine Mucopolysaccharides Abnormal
• Squared-Off Platyspondyly
• Soft, Doughy Skin
• Metaphyseal Widening
• Progressive Kyphoscoliosis
• Thoracic Asymmetry
• Long Second Toes