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