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23201 to 23300 most common queries

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

Episodic Insulin-Responsive Hyperglycemia Mutation in the ARMC4 Gene Ciliary Motility Decreased or Absent Possibly Early Cardiac Arrest and Sudden Death Mutation in the Triadin Gene Exercise-Induced Syncope Polymorphic or Bidirectional Ventricular Extrasystoles Death in Early Childhood May Occur Caused by Mutation in the Homolog of the E Coli ELAC 2 Gene Enlarged Mitochondrial with Abnormal Cristae (Heart Biopsy) Urine Organic Acids Increased Urine Orotic Acid Increased Mitochondrial Complex IV Activity Decreased Hyperintensities in the Basal Ganglia Mild Subclinical Decrease in Renal Function Possibly Aortic Dissection in 2nd Decade of Life Mutation in the PRKG1 Gene Small Vessel Cerebrovascular Disease Coronary Artery Aneurysm Tortuosity of Thoracic Aorta Mutation in the ARL2BP Gene Mild Posterior Subcapsular Cataracts Epiretinal Membranes with Wrinkling of Retina Marked Macular Atrophy Central Vision Decreased (Late Symptom) Decreased Night Vision (Early) Prominent or Broad Forehead Postnatal Overgrowth Ventriculomegaly Major Developmental Delay High Prevalence in the East Asian Population Possibly Normal Subsequent Development Early Speech Delay Mutation in the ELMO-CED12 Domain Containing Protein 3 Gene Hearing Loss Sensorineural and Conductive Severe to Profound Blistering May Worsen during the Summer Caused by Mutation in the Dystonin Gene (DST) Hemidesmosomes Show Poorly Formed Inner Plaques Immunostaining for BPAG1-e Decreased Myopia of Variable Severity Some Patients Never Achieve Sitting Infantile Severe Hypotonia Motor Nerve Conduction Velocity Decreased Sural Nerve Edema Spheroid Formation Sural Nerve Biopsy Shows Unmyelinated Axons Poor Speech or Lack of Speech Development Hammer-Shaped Toes High Arched Feet Accumulation of Abnormal Mitochondria Ragged Red Fibers (Biopsy) Mutation in the NEK8 Gene Atrium and Ventricle Unseptated Shortened Legs Asplenia Pancreas Enlarged Cystic Dysplasia Mutation in the Polyhomeotic-Like Protein 1 Gene Microcephaly (4-5 SD) Oligoasthenoteratozoospermia Sertoli Cell - Only Seminiferous Tubule Histology Mutations Occur De Novo Dysmorphic Corpus Callosum Posterior Pachygyria Posterior Agyria Mutation in the KIF2A Gene Thick Cortex Hair, Teeth and Nails Are Normal Lesions Appear in Infancy or Early Childhood Some Melanophages and Lymphocytes in the Upper Dermis Pigmentary Incontinence in the Papillary Dermis Pigmented Basal Layer of Epidermis Mutation in the CORO1A Gene Normal Thymus T Cell Proliferative Responses Mildly Decreased or Normal Variable Antibody Response to Vaccination Impaired Survival of Mature T Cells Circulating CD4+ T Cells Decreased Numbers of Naive CD4+ and CD8+ T Cells Decreased EBV-Induced B-Cell Lymphoma Good Seizure Control with Medication Tremor after Seizures Mutation in the Contactin 2 Gene Mesial Temporal Sclerosis Temporal Epileptiform Discharges Auditory, Olfactory and Visual Auras Features Occur Episodically Expression of GPI-Anchored Proteins on Blood Cells Decreased Some Features Are Variably Expressed Wide, Long Femoral Necks Premature Closure of Sutures Abnormal Skull Shape Premature Loss of Incisors Mild Macrocephaly Mild Macrosomia Ureteral Dilation Primitive Sylvian Fissures Variable Intracranial Abnormalities Severe Motor and Intellectual Disability Death in Utero or in Early Infancy