39001 to 39100 most common queries

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

• Exaggerated Startle Response to Tactile or Acoustic Stimuli
• No Osteoarthritic Symptoms
• Intervertebral Calcifications
• Nevus Flammeus (Eyelids and Nape of Neck)
• Apoptotic Neurons
• Onset in Early Childhood - Age 3
• Bone Marrow Biopsy Shows Erythrocyte Hypocellularity
• Occurs in at Least 1 in 55 000 Male Births
• Denervation Seen on EMG
• GMS is Goniodysgenesis, Mental Deficiency and Short Stature
• Often Results in Death in Childhood
• Onset of Neuromuscular Symptoms between 6 Months and 1 Year of Age
• Brain Iron Accumulation
• Production of Cytokines by T Cells Decreased
• Impaired Glucose Tolerance
• Usually Adult Onset
• Profound Deafness Affects All Frequencies
• Parental Somatic Mosaicism May Produce Mild Phenotype
• Poor or Absent Neurologic Development
• Reticulocytes Decreased
• Craniosynostosis - Coronal and Metopic Suture
• 'Ballooned' Neurons with Autofluorescent Fine Granular Material
• Loose Volor Skin of Hands
• Female Carriers Experience Significant Clinical Manifestations
• Bone Marrow Aspirate Shows Normal Cellularity and Reticular Fibrosis
• Increased Body Odor
• Frontotemporal Dementia of Variable Severity
• Onset of Hemolytic Anemia Shortly after Birth
• Mutation in the SOST Gene
• Respiratory Difficulties, Upper Airway Obstruction
• Keratan Sulfaturia in Some Patients
• Caused by Mutation in the Guanylate Cyclase 2C Gene
• Acquired Autoimmune Disorder
• Lower Limbs Weakness and Distal Atrophy
• Caused by Mutations in the Exostosin 1 Gene
• Slowing with Polyspike-and-Slow-Waves
• Nevus Flammeus (Eyelids)
• Normal Tarsals
• Abnormal Erythrocytes in Peripheral Blood Smear
• Mutation in the GLA Gene
• Gray Polymorphonuclear Neutrophils
• Difficulty Breathing through the Nostrils
• Frontotemporal Lobar Atrophy
• Favorable Response to Oral Creatine Treatment
• Mutation in the Triosephosphate Isomerase 1 Gene
• Pulmonary Function Tests Show Restrictive Ventilatory Defect
• Mutation in the ASNS Gene
• Irregular Menstruation
• Esophagitis with or without Esophageal Hernia
• Abnormal Cartilage Collagen On EM
• Bilateral Overriding of Single Toes
• Onset in Early Infancy between 2 Weeks and 3 Months
• Death Secondary to Respiratory Insufficiency
• Severe Bone Resorption of Feet
• Plasma Globotriaosylsphingosine Increased
• Late-Onset Thrombocytopenia
• Gray to Gray Blue Platelet on Wright-Giemsa Stain
• Cement Lines
• No Vascular Tortuosity
• Activity of Triosephosphate Isomerase Decreased
• Plasma and Urine Guanidinoacetate Decreased
• Radiology Suggestive of Pneumonia
• Small Bowel Obstruction due to Ileal Inflammation
• Brain Imaging Shows Cortical Atrophy
• Joint Deformity
• Inability to Reach
• Exostoses in Juxtaepiphyseal Regions of the Long Bones
• Caused by Mutation in the Troponin T1 Gene
• Short Dumbbell Appearance of Long Bones
• Carpals Normal
• Variable Neutropenia
• Whorl-Like Corneal Dystrophy in Carrier Females
• Large Wide Feet
• Cortical Sclerosis of Facial Bones
• Dihydroxyacetone Phosphate in Tissues and Red Cells Increased
• Platelet Derived Growth Factor Decreased
• Muscle Biopsy Shows Fiber Type Variation
• Small Bowel Obstruction due to Adhesions
• Accumulation of Surfactant Protein
• Increased Risk of Chondrosarcoma
• Progressive Proximal Contractures (Shoulders and Hips at Birth)
• Delayed Secondary Sexual Development
• Osteolytic Defects of the Proximal Phalanges of the Hand
• Coronal Cleft of Vertebrae
• Allelic Disorder to CHILD Syndrome
• Mutation in the ADCK4 Gene
• Abnormal Helices Antihelices and Lobules
• Severe Metabolic Acidosis
• Vacuolization of Glomerular and Tubular Epithelial Cells
• Anterior Horn Cell Impairment
• Thrombospondin Decreased
• Small Bowel Obstruction due to Volvulus
• Progressive Visual Impairment Mild
• Muscle Weakness Predominantly Proximal
• Lesions Continue to Grow until Epiphyseal Plate Closure
• Wrist Arthritis
• Absent Distal and Middle Phalanges
• Secondary Respiratory Infections
• Onset of Seizures in Infancy
• Muscle Biopsy Shows Myofibrillar Disruption