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22901 to 23000 most common queries

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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 Bilateral Mastoiditis