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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 Flat, Broad Feet