27501 to 27600 most common queries

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

• Unusual Behavior
• Hypoplasia of Corpus Callosum
• 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
• Vascular Sheathing
• 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
• Bitemporal Depression
• Lymphedema of Upper and/or Lower Extremity
• Retrocerebellar Cyst
• Mild Asymmetric Cerebellar Hypoplasia
• Cerebral Atrophy
• Dilation of Cerebral Ventricles
• Calcification of Cerebral Ventricles
• Equinus Deformities
• Ulceration and Amputation of the Toes due to Sensory Loss
• Ulceration and Amputation of the Fingers due to Sensory Loss
• Paralysis of the Lower Limbs
• 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 Lips
• Fleshy Tipped Nose
• Transverse Chest Groove
• Square Shoulders
• Mutation in the Interleukin 36 Receptor Antagonist Gene
• Parakeratosis in Stratum Corneum
• Elongation of Rete Ridges
• 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
• Mild Dolichocephaly
• Defective Platelet-Binding to Collagen
• Platelet Expression of GP6 Decreased
• Postsurgical Bleeding
• Mild Bleeding
• Mild Disorder
• 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
• Ectopic Eruption
• Exorbitism
• Sloping or Flat Forehead
• Vertical Crease in Fourth Interdigital Space
• Transverse Distal Crease Across Palm
• Punctal Pits
• Bilateral Preauricular Sinus
• Shawl Scrotum
• Progressive Valvular Thickening
• Laryngeal Stenosis or Insufficiency
• Lysosomal-Like Storage Vacuoles in Various Tissues
• Short Nose
• 'Happy' Face
• Onset in the 3rd Decade of Life or Later
• Attenuated Vessels
• Visual Acuity Relatively Preserved
• Visual Field Defects
• Mutation in the B9D2 Gene
• Persistence of Bile Duct Remnants
• Mutation in the Tectonic Family Member 1 Gene
• Frontotemporal Pachygyria
• Molar Tooth Sign on Brain MRI
• Caused by Mutation in the Palladin Gene
• Pigment Relative to Ethnic Background Reduced
• Absent Platelet Delta Granules
• Hyperelasticity