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28001 to 28100 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Fatal before Age 2 Years
Mutation in the Seryl-tRNA Synthetase 2 Gene
Enlarged Mitochondria with Paracrystalline Inclusions
Denuded Tubules
High Fractional Excretion of Magnesium
Low Fractional Excretion of Uric Acid
Enlarged Mitochondria
Globally Delayed Development
Peripapillary Retinal Pigment Epithelium Atrophy
Indistinct Foveolar Reflex
Fundus Examination Normal at Birth
Sluggish Pupillary Reflex
Color Vision Disturbed
Visual Fields Moderately to Severely Restricted
Oculodigital Sign of Franceschetti
Ocular Pursuit Poor or Absent
Visual Acuity Ranging from Perception of Light to 20%
Progressive Vision Loss during Childhood or Adolescence
Poor Vision at Birth
Activity of Dihydrofolate Reductase Decreased
Neuronal and Vascular Calcifications
Cerebellar Hypoplasia and Atrophy
Caused by Mutation in the Myozenin 2 Gene
Asymmetric Septal Hypertrophy
Repolarization Abnormalities
All De Novo Mutations
Small Vessel Brain Infarcts and Aneurysms
Bilateral Stenoses of the Terminal Internal Carotid Artery
Non-Specific Lung Disease
Small Vessel Retinal Infarcts and Aneurysms
Bilateral Periventricular White Matter Hyperintensities
Solute Carrier Family 24 Member 1 Gene
Absent A- and B-Waves under Scotopic Conditions
Funduscopic Examination Normal
Night Blindness Beginning in Early Childhood
Hypoglycosylation of Alpha-Dystroglycan (Muscle Biopsy)
Dystrophic Changes (Muscle Biopsy)
No Structural Brain Anomalies
Fibrosis Seen on Biopsy
Nonspecific Inflammation Seen on Biopsy
Giant Cell Hepatitis Seen on Biopsy
Mutation in the SMAD3 Gene
Meniscal Lesions
Spondylolysis
Uncovertebral Joint Osteoarthritis
Facet Joint Osteoarthritis
Uvula Abnormal
Antigenically Defective C8 Detected
Aortic Dissection with Little or No Aortic Enlargement
Deletion Sizes Range from 287 kb to 4.4 Mb
Sacral Crease
No Cancer despite Harboring Complete Deletions of the TP53 Gene
Earlobe Pits
Bilaterally Inverted Nipples
Limited or Nonverbal Speech
Height in Females Increased
Uterus Hypoplastic to Normal
Dysgenetic Testes
Normal-Appearing Female External Genitalia
Ambiguous Male External Genitalia
Mutation in the FADD Gene
Left Sided Superior Vena Cava Draining Into Left Atrium
Increased Fas Ligand
Number of CD4- CD8- TCR-Alpha-Beta+ T Cells Increased
Functional Hyposplenism
Mild Liver Dysfunction
Muscle Mass in the Thighs Decreased
Neonatal Hypotonia and Later
Amicable Behavior
Diffuse White Matter Loss
Mutation in the RHO Gene
Early Onset Night Blindness and Abnormal Fundus
Inferior and Inferonasal Retinal Pigmentation
Abnormal Electroretinograms in Heterozygotes
Mutation in the Phospholipase C Beta 1 Gene
Regression of Development
Psychomotor Development after Onset of Seizures Delayed
Suppression with Ictal Burst Activities
Abundant Slow-Waves and Fast Spike Activity
Full Recovery after Attacks
Onset Usually Associated with Febrile Illness
Onset of Acute Encephalopathic Attacks in Childhood
Cerebrospinal Fluid Lactate Increased during Acute Episodes
Forefoot Supination
Forefoot Adduction
Distal Joint Contractures - Lower Limbs
Distal Muscle Atrophy due to Neuropathy
Distal Muscle Weakness due to Neuropathy
Lesions in the Caudate and Putamen Seen on MRI
Episodic Encephalopathic Attacks Associated with Infection
Mutations with Partial Penetrance
Caused by Mutation in the Presenilin-2 Gene
Caused by Mutation in the Presenilin 1 Gene (PSEN1 104311-0034)
Absence of All Distal Creases of Second to Fifth Digits
Hypoplasia or Absence of Distal Phalanges of Great Toes
Absence of Distal Phalanx of Fifth Digit
Hypoplasia of Distal Phalanges of Second to Fourth Digits
Breast Hypertrophy in Females
Unilateral Vertebral Artery Hypoplasia
Moderate Restrictive Ventilatory Defect