32501 to 32600 most common queries

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

• Onset of Gait Abnormalities at Age 8-40 Years
• Upper Body Involvement
• Onset of Spasticity in Childhood
• Pigmentary Abnormalities Apparent at Birth or in Infancy
• Lentigenes
• Patchy Vitiligo
• 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
• Mild Palpebral Ptosis
• Nonaxial Myopia
• Metaphyseal Striations
• Mild Mesomelia
• Decreasing Lumbar Vertebrae Interpediculate Distance
• Mental Retardation in Subgroup of Patients
• Vertebral Agenesis
• Short Thin Ribs
• Intraabdominal Testes
• Urine Unsulfated Chondroitin Sulfate Increased
• Slightly Short Long Bones
• Proximal Radial Epiphyses Flattened
• Occasional Back Pain
• Lateral Extension of Vertebral Bodies Beyond the Pedicles
• Mild Osteopenia
• Urine Mucopolysaccharides Abnormal
• Squared-Off Platyspondyly
• Soft, Doughy Skin
• Long Second Toes
• Flat, Broad Feet
• Shortening of the Metatarsals
• Diaphyseal Shortness
• Severe Epiphyseal Hypoplasia
• Protruding Iliac Wings
• Small Sacrum
• Short Proximal and Middle Phalanges
• Brachydactyly E-Like Changes
• Very Short Distal Phalanges (2nd-5th)
• Acetabular Spurs (Infancy)
• Biconcave Vertebrae (Fish-Mouth Vertebrae)
• Mild Platyspondyly
• Death within First Decade
• Prevalent in Ashkenazi Jews
• Onset of Symptoms at 2-4 Months
• Normal First Month
• Caused by Mutations in the Aspartoacylase Gene
• Aspartoacylase Activity in Cultured Skin Fibroblasts Reduced
• Urine Cerebrospinal Fluid and Blood N-Acetyl-L-Aspartic Acid Increased
• Spongy Degeneration of Brain (Histology)
• Late Decerebrate or Decorticate Posturing
• Loss of Very Early Milestones
• Initial Hypotonia Followed by Spasticity
• Onset 7 to 15 Months of Age
• Possibly Degeneration of the Globus Pallidus
• Choreoathetosis of the Face, Trunk, Extremities
• Short Broad Palate
• Activity of Succinic Semialdehyde Dehydrogenase Decreased
• Plasma and Cerebrospinal Fluid GABA Increased
• Urinary Excretion of Gamma Aminobutyric Acid Increased
• Cerebrospinal Fluid and Plasma GHB Increased
• Increased Urinary Excretion of 4-Hydroxybutyric Acid (GHB)
• Psychosis in Older Patients
• Mild Autism
• Approximately 30% of Patients Show Normal Early Development
• Mild to Severe Development Delay
• Restlessness, Agitation, Crying under Stress
• Mild Eczema
• Urine Sulfate Decreased
• Urine Sulfite Increased
• Sulfite Oxidase Activity in Fibroblasts Decreased
• Teething Delayed
• Mutation in the Filamin B Gene (FLNB 603381)
• Unilateral Unsegmented Bar
• Broad Square Nasal Tip
• Round, Broad Face
• Usually Fatal by Age 5 Years
• Mutations in the HEXA Gene
• Ballooned Neurons
• Macular Pallor with Prominence of Fovea Centralis (Cherry-Red Spot)
• Deep Palatal Fovea
• Hypoplastic Maxillary Sinus
• Pseudoanodontia
• Multiple Non-Erupting Secondary Teeth
• Affected Infants Die in Neonatal Period
• Bilobar Right Lung
• Malformed Uterus
• Rarely Autosomal Dominant Inheritance
• Mutation in the Integrin Beta 3 Gene
• Deficiency of Glycoprotein GP-IIb-IIIa Complex
• Coomb-Negative Microangiopathic Hemolytic Anemia
• Ultra-Large von Willebrand Factor in Plasma
• Fluctuating Neurologic Signs
• Olecranon Unfused
• Mutations in the Thyroid Peroxidase Gene
• Tyrosine Iodination Defect
• Thyroid Peroxidase Defect
• Defective Thyroid Oxidation and Organification of Iodide
• Levels of Free Thyroid Hormones Normal or Mildly Decreased
• Patients with Hypothyroidism Have Hypoplastic Thyroid Gland