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22901 to 23000 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Vibratory Sense at the Ankles Decreased
Inability to Run
Death in Infancy without Bone Marrow Transplantation
T Cell Proliferative Responses in Vitro Decreased
Lack of Peripheral CD3+ T Cells
Evidence of Incomplete Penetrance in One Family
Decreased Ejection Fraction of Right Ventricle
Kinetic Abnormalities of Right Ventricle
Mild to Severe Right Ventricular Dilation
Sustained or Nonsustained Ventricular Tachycardia
Mutation in the CD3 Antigen Epsilon Subunit Gene
NK Cells Normal
Absence of CD3+ T Cells
Partially Defective Antibody Production
Variably Impaired T Cell Proliferative Responses
Cytotoxic T Cell Activity Decreased
CD3 Expression on T Cells Decreased
Tönnis Angle >10 Degrees (X-Rays)
Center-Edge Angle Less than 20 Degrees Seen on X-Ray
Disruption of Shenton Line (X-Rays)
T Cell Lymphopenia Is More Severe Early in Life
Normal B Cells
Numbers of Thymus Emigrant Cells Decreased
CD3 Complex Decreased
Decreased CD4+CD45RA+ T Cells
CD8+ T Cells Decreased
Partial T Cell Lymphopenia
Femoral Deformity
No Renal Failure
Glomerular Function Normal
Proximal Renal Tubular Defect
Each One Patient with Homozygous and Heterozygous Mutation
Progressive Hair Loss
Hematologic Parameters Normal
L-Transferrin Decreased
L-Transferrin Undetectable
Mild Neurocognitive Impairment
Idiopathic Generalized Epilepsy in Childhood
Pigmentary Retinal Changes
Postnatal Microcephaly (2-5.5 SD)
Poor Speech or No Speech
Mutation in the SERPINB7 Gene
Mild to Moderate Lymphocytic Infiltrate in Upper Dermis
Mild Perivascular Inflammatory Infiltrates
Distinct Odor of Palms and Soles
Maceration of Palms and Soles
Mutation in the STT3B Gene
Mildly Abnormal Glycosylation of Serum Transferrin - Type 1 Pattern
No Visual Tracking
Incomplete N-Glycosylation of Cellular Proteins
Abnormal Glycosylation of Serum Transferrin (Type 1 Pattern)
Newborn Period is Critical for Survival
Decreased Activities of Mitochondrial Complexes I, II, and III
Lipid Accumulation in Muscle Tissue
Early Death without Bone Marrow Transplantation
Impaired Response to Immune Stimulation
Poor Differentiation and Proliferation of B and T Cells
Circulating T and B Cells Are Naive
Number of NK Cells Decreased
Normal or Decreased Numbers of Circulating B Cells
Normal Numbers of Circulating T Cells
Air-Bone Gap of >20 Db across 0.5-2 kHz
Absent Stapedial Reflexes or Intraoperative Stapes Immobility
Deletion of Chromosome 8q24.3 Including the SCRIB and PUF60 Genes
Malpositioned Thumbs
Bilateral Contractures of Toes - More Severe on Right Side
Small Metopic Ridge
Subcutaneous Fat Markedly Reduced
Delay of Gross Motor Function
Mild Congenital Hypotonia
Variable Red Blood Cell Size
Hypersegmented Neutrophils
Mitochondrial Complex I Deficiency in Muscle
Delayed Visual Evoked Potential
Increased Mitochondria Seen on Muscle Biopsy
Intermittent Hypoglycemia
ACTH Low
Autoimmune Features
Characterized by Calf Weakness at Onset
Onset in Second to Fourth Decade
Caused by Mutation in the F-Box Only Protein 38 Gene
Exertional Leg Pain
Proximal Muscle Weakness and Atrophy
Limb Muscle Weakness and Distal Neurogenic Atrophy
Denervation Seen on EMG
Loss of Ankle Reflexes
Proximal Lower Limb Weakness
Lower Limbs Weakness and Distal Atrophy
Mutation in the ASNS Gene
Brain Imaging Shows Cortical Atrophy
Multiple Independent Spike Foci
Burst Suppression
Appendicular Hypertonia
Mutation in the ADCK4 Gene
Defective Mitochondrial Respiratory Enzyme Activity
CoQ10 Levels in Lymphoblasts or Fibroblasts Decreased
Collapsing FSGS
Caused by Mutation in Paired Box Gene 1 (PAX1)
Cutaneous Syndactyly - Second and Third Toes
Fusion Defect at L5/S1