25601 to 25700 most common queries

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

• Stromal Thinning
• Mutation in the ERCC8 Gene
• No Increased Sensitivity to Oxidative Species
• Some Patients Have Resolution of Symptoms in First Year of Life
• Exaggerated Startle Response to Tactile or Acoustic Stimuli
• Profound Deafness Affects All Frequencies
• Caused by Mutation in the Guanylate Cyclase 2C Gene
• Esophagitis with or without Esophageal Hernia
• Small Bowel Obstruction due to Ileal Inflammation
• Small Bowel Obstruction due to Adhesions
• Small Bowel Obstruction due to Volvulus
• Electrolyte Disturbances in Infancy
• Metabolic Acidosis in Infancy
• Dehydration in Infancy
• Mild Chronic Early-Onset Diarrhea
• Meteorism - Gaseous Distention of the Stomach or Intestine
• Reported in Individuals of French Canadian Origin
• Brain MRI Shows Molar Tooth Sign
• Intracranial Thrombosis
• Severe Brachydactyly with Sparing of the Big Toe
• Lack of Normal Lumbar Interpediculate Flare
• Maxillonasal Hypoplasia
• Facial Dysostosis
• Incomplete but High Penetrance
• Presenting Symptoms in the Upper Body
• Mutation in the Mitochondrial Ribosomal Protein L3 Gene
• Cortical Hypergyria
• Mutation in the COG6 Gene
• No Systemic Manifestations
• Slow Spike-Wave Discharges
• Diffuse Slowing
• Generalized Spike-and-Slow-Waves
• Speech and Language Regression
• Deletion of 1.0-2.5MB on Chromosome 17q12
• Mild Nail Hypoplasia
• Short Feet
• Long Thin Feet
• Long Fingers
• Long Thin Hands
• Short Arms and Legs
• Long Slender Arms and Legs
• Joint Mobility Decreased
• Deviation of Nasal Root
• Tubular Nose
• Horizontal Nystagmus
• Laterally Sparse Eyebrows
• Bilateral Sensorineural Hearing Loss
• Prominent Earlobes
• Hypertrichosis of Upper Lip
• Slight Deviation of Maxilla
• Mild Facial Asymmetry
• Liver Enzymes Elevated
• Thin Bladder Wall
• Normal Kidneys
• Pelvic Dilation
• Bilateral Ureteropelvic Junction Stenosis
• Hyperechogenic Kidneys or Renal Cysts on Prenatal Ultrasound
• Multicystic Dysplastic Kidneys
• Duplication of 1.0-2.5 Mb on Chromosome 17q12
• Broad Toes
• Bilaterally Short Second Fingers
• Mild Brachydactyly
• Rotational Tongue Movements
• Cleft Soft Palate
• Large Anteverted Ears
• Smooth Philtrum
• Hypotonic Facies
• Unilateral Megacalicosis
• Axial Hypotonia
• Cortical Dysplasia Focal
• Many Features Are Present Only in an Untreated Patient
• Absence of Hip Ossification Centers
• Slow Deep Tendon Reflexes
• Slow Reactions
• Furrowed Facial Skin
• Thick Facial Skin
• Infantile Airway Compression due to Massive Aortic Aneurysm
• Relatively Mild Cutis Laxa and Severe Vascular Abnormalities
• Multiple Arterial Stenoses
• Venous Tortuosity
• Multiple Arterial Aneurysms
• Thickened Myocardium
• Severe Underdevelopment of Elastic Fibers
• Vascularization Increased in Upper Dermis
• Small Collagen Bundles
• Scarring Normal
• Contractures of Third to Fifth Fingers
• Generalized Joint Hypermobility
• Bulbous Nasal Tip
• Fetal Overgrowth
• Hypoplastic Diaphragm
• Onset Usually in Adulthood
• Nerve Conduction Velocities Only Slightly Decreased
• Some Patients May Have Normal Brain Imaging
• Caused by Mutation in the Beta Acid Glucosidase 2 Gene
• Low Sperm Velocity
• Abnormal Sperm Head
• Small Testicles
• Axonal Sensory Polyneuropathy
• Vibratory Sense in the Lower Limbs Decreased