23001 to 23100 most common queries

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

• White Matter Degeneration
• Axonal Motor Neuropathy (in about 50%)
• Loss of Myelin in the Pyramidal Tracts
• Tau-Containing Inclusions
• Progressive Congenital Sensorineural Hearing Loss
• Biparental Complete Hydatidiform Mole
• Mutation in the LEPREL1 Gene
• Lens Instability
• Mutation in the Alpha 2 Subunit of Collagen Type 9 Gene
• Average Adult Height
• Only 46,XY Karyotypes Are Affected
• Rudimentary Mullerian Structures
• Increase in Pregnanediol and Pregnanetriol after ACTH Stimulation
• Marked Increase in Pregnanetriolone after HCG or ACTH Stimulation
• No Increase in Testosterone after HCG or ACTH Stimulation
• Urine Pregnanetriolone Detectable
• Baseline Pregnanediol and Pregnanetriol Normal
• Urine 17-Hydroxycorticoids Normal
• Urine 17-Oxosteroids Normal
• Urine Estrogens Low
• Urine Gonadotropins Elevated
• Trigger Deformity of the Fingers
• Joint Contractures of the Hips Knees Hands and Elbows
• Variable Cardiac Defects
• Seizures Usually Occur in the First Months of Life
• Multiple, Small, Diffuse Capillary Malformations
• Abnormal Toe Positioning
• Brain Imaging Shows Enlarged Extraaxial Space
• Simplified Cortical Gyral Pattern
• Mutation in the FAM20A Gene
• Favorable Response to Levodopa
• Onset in Late Teens to Early Forties
• Caused by Mutation in the Myelin-Oligodendrocyte Glycoprotein
• Diabetes Type 2
• Microcephaly - About 3 SD below the Mean
• Few and Small Islets of Langerhans
• Infantile Diabetes Mellitus
• Underdeveloped Alae
• Onset of Ataxia in the Fifties
• Caused by Mutation in the Synaptotagmin 14 Gene
• Ambulation Is Usually Maintained during Adulthood
• Mutation in the Cytoplasmic Dynein 1, Heavy Chain 1 Gene
• Sural Nerve Biopsy Shows Axonal Degenerative Process
• Variable Distal Sensory Impairment
• Defective Urinary Concentration
• Interstitial Nephropathy
• Supravalvular Pulmonic Stenosis
• Retinal and-or Subretinal Pigmentary Changes
• Hemorrhage beneath Internal Limiting Membrane
• Exudative Maculopathy
• Retinal Arterial Beading Along All 4 Retinal Arterial Trunks
• Prominent Veins on Scalp, Trunk, and/or Extremities
• Interdigital Webbing
• Shortened Digits
• Congenital Vitreoretinal Abnormalities
• Rod Dystrophy
• Lymphedema of Upper and/or Lower Extremity
• Retrocerebellar Cyst
• Mild Asymmetric Cerebellar Hypoplasia
• Dilation of Cerebral Ventricles
• Calcification of Cerebral Ventricles
• Ulceration and Amputation of the Toes due to Sensory Loss
• Ulceration and Amputation of the Fingers due to Sensory Loss
• Distal Weakness - Upper and Lower Limbs
• Distal Leg Muscle Atrophy
• Spontaneous Pain
• Panmodal Distal Sensory Loss
• High Frequencies Affected before Low Frequencies
• Postlingual Onset in Second to Third Decades
• Fleshy Tipped Nose
• Transverse Chest Groove
• Mutation in the Interleukin 36 Receptor Antagonist Gene
• Parakeratosis in Stratum Corneum
• Spongiform Pustules
• Incomplete, Age-Associated Penetrance
• Mean Age of Onset 50 to 52 Years
• Mutation in the Mannosidase Alpha Class 1B Member 1 Gene
• Triangular Chin
• Defective Platelet-Binding to Collagen
• Platelet Expression of GP6 Decreased
• Postsurgical Bleeding
• Mild Bleeding
• Defective Adhesion of Platelets to Collagen and Subendothelium
• Platelets Show Decreased GPIa-GPIIa Surface Complex
• Mild Alpha Granule Deficiency
• Variable Response to Steroid Treatment
• End-Stage Renal Failure May Occur
• Rare Mesangial IgM Deposition
• Attenuation of the Glomerular Basement Membrane
• Microvillus Transformation of Podocytes
• Swollen Podocytes
• Effacement of Podocyte Foot Processes
• Minimal Change Disease on Renal Biopsy
• Tubulointerstitial Atrophy
• Possibly Crouzon-Like Appearance
• Dysplastic Fingernails
• Mild Syndactyly of Second and Third Toes
• Short Phalanges
• Coronal Suture Synostosis
• Metopic Suture Synostosis