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Mutation in the POFUT1 Gene Keratin Filaments Normal Melanocytes Lack Melanosomes Small Melanocytes Abnormal Basal Pigment Granule Distribution Hyperkeratosis with Multiple Horny Follicular Plugs Dark Brown Hyperkeratotic Papules on Neck, Chest and Back Hypopigmented Macules on Neck, Chest and Back Hyperpigmentation in a Reticular Pattern Primarily on Flexural Skin Patients Become Wheelchair Bound as Adults Onset between 15 and 27 Years Mutation in the DES Gene Rare Ventricular Extrasystoles Mild Scapular Winging No Myofibrillar Abnormalities or Protein Aggregation Proximal Muscle Weakness Limb Girdle Distribution Caused by Mutation in the Transcription Factor-12 Gene Syndactyly between Adjacent Toes Malocclusion Class 1 or 2 Minor Ear Anomalies Low Anterior Hairline Prominent Cerebrospinal Fluid Spaces Prominent Ventricles Golden Colored Hair White Skin Depigmented Iris Mutation in the Leucyl tRNA Synthetase 2 Gene Upsloping Audiograms Hearing Loss More Severe at Lower Frequencies Aplastic Toenails Café Au Lait Spots on Chest and Abdomen Soft Tissue Syndactyly Absent Middle Phalanges of Some Toes Absent Distal Phalanges of Some or All Toes Bony Defect of Scalp Underlying Cutis Aplasia Occipital Lobe Infarct Temporal Lobe Infarct Mutation in the NOTCH3 Gene Slowly or Non-Progressive Knee Contractures Neurogenic Abnormalities (EMG) Proximal and Distal Muscle Atrophy (Especially Lower Limbs) Proximal and Distal Muscle Weakness (Especially Lower Limbs) Loss of Motor Neurons in the Anterior Horn of the Spinal Cord Upper Motor Signs Testicular Hypoplasia Mild Brain Anomalies (MRI) Early Death due to Infection May Occur Mutation in the Homolog of the Yeast Vacuolar Sorting Protein 45 Gene Abnormal Development of Neutrophils (Bone Marrow) Nucleated Red Cells in Peripheral Blood Recurrent Bacterial and Fungal Infections Enlarged Kidneys due to Extramedullary Hematopoiesis Patients May Become Wheelchair-Bound as Adults Proximal Muscles May be Mildly Affected Distal Limb Muscle Atrophy Lower more than Upper Regenerating Clusters of Axons Peripheral Neuropathy Causing Distal Leg Weakness Microcephaly (>4 SD) Delayed Brain Stem Development Delayed Cerebellar Development Mutation in the DARS Gene Independent Walking Never Achieved Spasticity Lower Limbs Greater than Upper Limbs Transferrin Isoelectric Focusing Test Normal Abnormal Urine Oligosaccharides Mutation in the N-Glycanase 1 Gene Congenital Absence of Tears Amorphous Substance in the Cytoplasm Inflammatory Liver Changes Mildly Delayed Myelination Multifocal Intractable Epilepsy Increased Chromosome Breakage Quadrupedal Locomotion Mutation in the IL17RD Gene Fatal if Renal Transplant is not Performed Foot Process Effacement Immature Podocytes Abnormal Glomeruli (Biopsy) Resting Metabolic Rate Increased Adiponectin Decreased Normal Adipose Tissue in the Face Secondary Pancreatitis Increased Focal Mitochondrial Density Preservation of Visceral Neck and Axillary Fat Pads Lack of Adipose Tissue on Limbs and Femorogluteal Regions Mutation in the Alpha 4 Laminin Gene Loss of Endothelial Cells (Myocardial Biopsy) Markedly Decreased Ejection Fraction Severe Dilated Cardiomyopathy Marked Skin Pallor Erythropoietic Hyperplasia of Bone Marrow Aniso-Poikilocytosis on Blood Smear Marked Pallor of Mucous Membranes Gonadal Atrophy Thyroid Failure Adrenal Failure Dysfunction of Hypothalamo-Pituitary-Gonadal Axis Wide Intrafamiliar Range of Severity Mutation in the Retinol Binding Protein 3 Gene