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25001 to 25100 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Bone Dysplasia
T Cell Proliferation Decreased
Naive T Cells Low
Low Memory B Cells
Lack of Acquired Antibodies
IgM and IgG2 Decreased
Hypoplastic Optic Chiasm
Cyst Associated with Dysplastic Globe
Onset of Tremor Usually before Onset of Seizures
Young Adult Onset
Cortical Reflex Myoclonus
Photoparoxysmal and Photomyoclonic Responses
Spike-and-Slow-Wave or Polyspike-and-Slow-Wave Discharges
Cortical Origin of Tremor
Favorable Response to Rituxan
Recurrent Acute Episodes
Variable Survival
Persistent EBV Viremia
Increased Susceptibility to EBV Infection
Systemic Inflammatory Response
Hemophagocytosis
NK Levels Decreased
Lack of CD27 Expression on Lymphocytes
Defective CD8+ T Cell Function
T-Cell-Dependent Antibody Production Decreased
Hemophagocytic Lymphohistiocytosis
Persistent Lactic Acidosis
Cytochrome C Oxidase Activity Decreased
Biventricular Hypertrophic Cardiomyopathy
Cytochrome C Oxidase Activity Mildly Decreased
Abnormal Facial Expression Upon Smiling Laughing or Crying
Low Capacity Bladder
Broad, Flat Nares
Mild Pectus Excavatum
Death Usually by 1 Year of Age
Caused by Mutation in the Zinc Finger Protein 335 Gene
Prominent Helices
Low Sloping Forehead
Severe Microcephaly (>9 SD)
Poor Somatic Growth
Poor Dendritic Maturation
Abnormal Cell Orientation
Little Polarity in Remaining Neurons
Loss of Neurons Affecting All Cortical Layers
Severe Cerebral Atrophy
Prominent Trabeculations
Abnormal Lung Lobulation
Horizontally Oriented Ribs
Mutation in the SNX10 Gene
Fully Ossified Sphenoid Sinuses
Fully Ossified Ethmoid Air Cells
Narrow Optic Canal
Narrowed Medullary Space due to Encroachment of Cortical Bone
Dense Bones
Unilateral or Bilateral Vision Loss
Sclerosis of Semicircular Canals
Mutation in the MGME1 Gene
Creatine Kinase Mildly Increased
Gastrointestinal Symptoms
Profound Emaciation
Variable Deficiencies of Mitochondrial Respiratory Chain Enzymes
COX Negative Fibers
Hypergonadotropic Hypogonadism - Reported in 1 Female
Mutation in the Kelch-Like Protein 10 Gene
Asthenozoospermia
Epiphyseal Changes in the Proximal Phalanges Mild
Deep-Seated Eyes
Microcephaly (3-5 SD below the Mean)
Complex Cardiac Malformations
Nasal Nitric Oxide Decreased
No Ophthalmoplegia
Pterygia of Groin
Pterygia of Elbows
Pterygia of Axillae
Pterygia of Neck
Mild Camptodactyly
Adducted Wrists
Extension Contractures of Knees
Bilateral Hip Dislocation
Ptosis - Unilateral or More Severe on One Side
Intrafamilial Variability in Degree of Hypotrichosis
Normal Pubic Hair
Absent Body Hair
Hypotrichosis or Alopecia
No Response to Dim Stimuli in Dark-Adapted State (ERG)
Cone-Driven 1-Hz Response with Unusual Waveform (ERG)
Positive Component on Electroretinography Reduced
Preserved Negative Component on Electroretinography
Difficulties in Fine Movement of the Hands
Fibroblasts Accumulate Dol-PP-GlcNAc2Man5
Abnormal N-Glycosylation of Transferrin
Reduced O-Mannosyl Glycans on Alpha Dystroglycan
Loss of Cerebral White Matter
Absence of Spontaneous Movements
Caused by Mutation in the Transmembrane Protein 5 Gene
Limb Deformation
Occipital Neural Tube Defects
Described in Individuals of Bukharan Jewish Descent
Central Apneic Episodes May Be Fatal
Chubby Appearance