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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