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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