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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