24901 to 25000 most common queries

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

• Onset of Alopecia in Infancy
• Caused by Mutation in the Ataxia-Telangiectasia Mutated Gene
• Clinical Features May Vary
• Severe Proximal and Distal Muscle Weakness
• Stereotypic Laughter
• Vacuolation of Granular Layer
• Ventricles Slightly Enlarged
• Hyperkeratosis of Skin at Nipples and Umbilicus
• Normal Red Cell Counts
• Gait Difficulties Due to Contractures of the Lower Limbs
• Unilateral Microphthalmia
• Genital Tract Abnormalities
• Mutation in the CRYAB Gene
• Sparse Pigmentation of the Peripheral Ocular Fundus
• Multifocal Epileptic Activity
• Lower Motor Neuron Involvement after Long Disease Duration
• Mild Perivascular Lymphocytic Dermal Infiltrate
• Mutation in the WDR81 Gene
• Progressive Cone Degeneration
• Numbers of Circulating NK Cells Decreased
• Bifid Uvula
• Digitalization of Thumb
• Moderate Erythroderma
• Polymorphic Geographic Deposits at Bowman's Layer
• Morning Glory Optic Disc
• Pigmentary Abnormalities
• Chronic Onychomycosis
• Normal Hair Follicles
• Multiple Mitochondrial DNA Deletions
• Movements ('Tremors') Characterized by 8-10 Hz Discharges
• Alopecia within Lesion
• Proximal Muscle Weakness - Less Severe
• Usually Poor Response to Steroids
• Asymmetric Palpebral Fissure
• Death Usually in Early Childhood
• Asthenic Build
• Leukocytosis (Mean Leukocyte Count: 18.7*10^9/l)
• Bulbous Fingertips
• Crenated Cataracts
• Mutation in the HSD17B4 Gene
• More Severe Loss of Position and Vibration
• Mutation in the TIA1 Gene
• Urine Pyridinoline and Deoxypyridinoline Elevated
• Aspartate Aminotransferase and Creatine Phosphokinase Elevated
• Osteosclerosis of the Calcaneus
• Osteosclerosis of the Talus
• Osteosclerosis in Short Tubular Bones of the Hands
• Osteopenic Shafts of Long Bones
• Osteosclerosis of the Pubic Bone
• Osteosclerosis of the Ischium
• Osteosclerosis of the Iliac Crests
• Osteosclerosis of Vertebrae
• No Osteosclerosis
• Less than 3rd Centile
• Osteosclerosis of the Scapulae
• Osteosclerosis of the Clavicles
• Osteosclerosis of the Anterior and Posterior Ribs
• Late-Onset Spastic Paraplegia
• Mutation in the LAMB1 Gene
• Macrocephaly due to Hydrocephalus
• Cobblestone Lissencephaly (Posterior-Anterior Gradient of Severity)
• Onset of Disease after Fourth Decade of Life
• Inverted T Waves in Precordial Leads
• Mild Left Ventricular Dilation
• Dilated Cardiomyopathy, Mild
• Increased Urinary 2-Oxoglutaric Acid
• Predominance of the D-Stereoisomer
• Germinal Cysts Over the Caudate
• Delayed Opercularization
• Glycosylation of Alpha-Dystroglycan Decreased (Muscle Biopsy)
• Frontotemporal Leukoencephalopathy
• Severe Cognitive Impairment
• Pale Blond to Light Brown
• Malformed Fingernails
• Ankylosis of Tarsometatarsal Joint
• 2nd Metacarpal Exostosis
• Total Cutaneous Webbing
• Rudimentary Terminal Phalanx
• Dysplasia of Middle and/or Distal Phalanges
• Bifid 5th Toe
• Mesoaxial Camptodactyly
• Broad Metacarpal Bones
• Broad Carpal Bones
• Symphalangism of the DIP Joint
• Severe Syndactyly
• Ulnar Deviation of Middle Finger
• Camptodactyly of 5th Fingers
• Mild Ptosis
• Muscle Biopsy Shows mtDNA Deletions
• Mild Limb Girdle Muscle Weakness
• Carpal Coalition (Fusion of Carpal Bones)
• Congenital Hip Dislocations Resistant to Surgical Treatment
• Cervical Spine Anomalies
• Long, Oval-Shaped Face
• Mutation in the POLE Gene
• Telangiectasia on the Cheeks
• Modeling Defects at the Long Bone Diaphyses
• Cortical Thickening
• Lacunar Bone Lesions
• Bone Dysplasia