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

Sleep-Wake Cycle Disturbed Lack of Independent Ambulation Epileptic Encephalopathy Developmental Regression after the First Year Mutation in the PSMC3 Interacting Protein Gene Underdeveloped Pubic Hair Androgen Levels Normal Progesterone Undetectable Estradiol Non-Detectable Luteinizing Hormone Levels Elevated Benign Condition May Fade with Age Lesions Grow and Spread with Age No Preceding Skin Inflammatory Stage Numbers of Melanosomes in Keratinocytes Increased No Incontinence of Pigment No Melanophages Mild Elongation of the Rete Ridges Increased Melanin in Basal Layer Numbers of Basal Melanocytes Normal or Mildly Increased Hyperpigmented Whorls Hyperpigmented Streaks Following Lines of Blaschko Mild Eosinophilia May Occur Onset of Seizures between 9 and 12 Months of Age Mutation in the Caveolin 3 Gene Benign Palpitations Absence of Caveolin-3 Staining Distal Muscle Weakness Particularly Affecting the Hands Acute Encephalopathic Episodes May Occur C26 Bile Acid Intermediates Increased Phytanic Acid Normal or Increased No Liver Disease White Matter Hyperintensities in Various Brain Regions Mutation in the SCN8A Gene Attention Deficit - Hyperactivity Disorder Brain MRI Shows Cerebellar Atrophy Mutation in the LRP4 Gene Radial Deviation of Distal Phalanx Bony Syndactyly of Digits Cortical Hyperostosis of Long Bones Sclerotic Pelvic Bones Sclerotic Vertebral End Plates and Pedicles Enlarged, Sclerotic Mandible Facial Asymmetry due to Facial Nerve Palsy High Stature Wide, Dense Ribs Wide and Dense Clavicles Spastic-Ataxic Tetraparesis Caused by Mutation in Micro-RNA 184 Gene Slightly Eccentric Pupils Endothelial Corneal Dystrophy Anterior Polar Cataract - Congenital or Early Onset Severe Anterior Keratoconus Corneal Thinning and Steepening Caused by Mutation in the Adenosine Kinase Gene (ADK) Cardiac Defects Urine Adenosine Increased S-Adenosylhomocysteine Increased S Adenosylmethionine Increased 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 Abnormal Hair Whorls 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 Sleep Latency Decreased Diabetes Type 2 Microcephaly - About 3 SD below the Mean Few and Small Islets of Langerhans Infantile Diabetes Mellitus Broadening of First Rays Underdeveloped Alae