Sitemap | Symptoma 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
