26201 to 26300 most common queries

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

• Cardiac Failure (Sudden Death Reported)
• Phytanic Acid Oxidase Activity Decreased
• Phytanic Acid in Body Tissues and Fluids Increased
• Limb Atrophy
• Cerebrospinal Fluid Protein Increased, Cell Count Normal
• Fibrin-Rich Alveolar Deposits - 'Hyaline Membranes'
• Surfactant Decreased
• Premature Delivery (<37 Weeks of Gestation)
• Adult Onset Cerebellar Ataxia
• Nail Dysplasia (35%)
• Thoracic Hemivertebrae (98%)
• Bifid Tongue (59%)
• Gingival Hyperplasia (71%)
• Thin Upper Lip (29%)
• Anteverted Nares (96%)
• Nasal Bridge Depressed
• Broad Nasal Bridge (95%)
• Short Upturned Nose (95%)
• Low-Set Ears (45%)
• Renal Duplication (10%)
• Cryptorchidism (67%)
• Inguinal Hernia (21%)
• Small Penis (100%)
• Congenital Secretory Sodium Diarrhea
• Abdominal Distention at Birth
• Familial Form - Constitutional Deficiency of vWF-Cleaving Protease
• Mutation in the Von Willebrand Cleaving Protease Gene
• Onset Usually in Infancy although Later Onset May Occur
• Urine Thymine Increased
• Iodine Supplementation Superior to Thyroid Hormone Replacement
• Mutation in the Solute Carrier Family 5 Member 5 Gene
• Radioactive Iodine Uptake Decreased
• Lethargy (when Taken off of Medication)
• Thyroid Iodine Accumulation Defect
• Mutation in the Solute Carrier Family 26 Member 4 Gene
• Vestibular Function Defect
• Mutation in the Thyroglobulin Gene
• High FT3 : FT4 Ratio
• Excessive Iodide Trapping
• Mutation in the IYD Gene
• Iodine Depletion
• Tyrosine Loss
• Continuous Urinary Iodine Loss
• Rapid, High Radioactive Iodine Uptake and Turnover
• Thyroglobulin Absent or Abnormal
• T4 Low or Low Normal
• Jejunal Fibrosis and Degeneration
• Small Bowel Dilatation
• Progressive Intestinal Pseudoobstruction
• Incomplete Penetrance of Some Features
• Thick Skin (66%)
• Microspherophakia
• Ectopia Lentis (64%)
• Glaucoma (75%)
• Varying Degrees of Hypotrichosis
• Caused by Mutation in the XPC Gene (XPC)
• Early Freckle-Like Lesions in Exposed Areas
• No Mechanical Intestinal Obstructive Lesion
• Abnormal Argyrophilic Neurons in the Myenteric and Submucosal Plexuses
• Abnormal Gastrointestinal Motility
• Malformation of the Insular Cortex
• Subcortical Band or Laminar Heterotopia in Female Carriers
• Thickened Alae Nasi and Columella
• Upturned Lobes
• Hypotonic Midface
• Mild Dysmorphic Features
• Multicystic Kidney
• Normal Psychomotor Development until Age 2 to 3 Years
• Some Phenotypic Overlap with Rett Syndrome
• Males Rarely Affected
• Motor Dyspraxia
• Psychomotor Regression May Occur
• Infantile-Onset Seizures
• Onset in Late Childhood or Adulthood
• Muscle Biopsy Shows Myopathic or Dystrophic Changes
• Males Died in Neonatal Period
• Males Are More Severely Affected than Females
• Interrupted Aortic Arch
• Skewed X-Inactivation in Females
• Parathyroid Hormone Normal (Female)
• Calcium Normal (Female)
• Small Toenails in Males
• Flat Feet (Female)
• Excessive Number of Fingerprint Arches
• Small Hands (Male and Female)
• Cortical Thickening of Long Bones (Female)
• Narrow Iliac Wings (Females)
• Absent or Hypoplastic Frontal Sinuses in Females
• Widened Sutures (Male)
• Soft Tissue Growths at Angle of Mouth
• Choanal Atresia (Male)
• Posteriorly Rotated Ears in Females
• Micrognathia (Males and Females)
• Microcephaly - Male and Female
• Gallbladder Absent
• Intrauterine Growth Retardation (Males)
• Extra Superior Temporal Gyrus (Females)
• IQ 85-115 in Females
• Fifth Toe Hypoplasia
• Autistic-Like Features