23201 to 23300 most common queries

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

• Encephalopathy during Episodes
• 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