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List represents a sample of symptoms, diseases, and other queries. Updated weekly.

Downsloping Audiogram Mutation in the Synaptotagmin 2 Gene EMG Shows Evidence of Reinnervation Presynaptic Defect at the Neuromuscular Junction Post-Exercise CMAP Amplitude Facilitation Compound Muscle Action Potential with Low Amplitude Impaired Heel Walking Impaired Toe Walking Easy Fatigability with Exercise Onset in Early Childhood - 4 to 5 Years Mutation in the Cytochrome C Oxidase Subunit VIa Polypeptide 1 Gene Nerve Conduction Velocities Decreased or Normal Myelinated Axon Caliber Decreased Decreased Number of Myelinated Fibers (Sural Nerve Biopsy) Mixed Axonal and Demyelinating Neuropathy Usually Death in Utero or Rarely in Neonatal Period Taunt Skin Deformed Digits Deformed Limbs Abnormal Mouth Abnormal Nose Absent or Abnormal Eyelids Gyri Decreased or Absent Absent Outer Dynein Arms in the Axoneme Mutation in the Mitochondrial NAD Kinase 2 Gene Mitochondrial NADPH Decreased DECR Enzyme Activity Decreased Urine Organic Acids Abnormal C10:2-Carnitine Increased Free Carnitine Decreased Inappropriate Insulin Secretion Thelarche Delayed Small Brain with No Other Malformation Seen on MRI Hypoglycemia-Related Seizures Pubertal Development Delayed Early-Onset Diabetes Highly Variable Age at Onset Bilateral Aplasia of Olfactory Bulbs Luteinizing Hormone Low Multiperforated Patent Foramen Ovale Hypoplastic or Absent Toenails Macular Hemangioma Absent Bone in Areas of Aplasia Cutis Congenita Hypertensive Gastropathy High Signal Intensities in Periventricular White Matter Hypoplasia of Dentate Nucleus Structural Abnormalities of Cerebellum Cortical Venous Thromboses Metabolic Acidosis due to Renal Bicarbonate Loss Some Patients Develop Diabetes Mellitus as Adolescents Onset of Renal Dysfunction in Early Childhood Onset of Hypoglycemia and Hyperinsulinism in the Neonatal Period Mutation in the Hepatocyte Nuclear Factor 4 Alpha Gene Poor Response to G-CSF Treatment Caused by Mutation in the Isoleucyl-tRNA Synthetase 2 Gene Few Fungiform Papillae Loss of Myelinated Fibers Seen on Sural Nerve Biopsy Atrophy of the Pituitary Mutation in the Homolog of the Drosophila Fat Tumor Suppressor Gene 4 Mutation in the PIK3R1 Gene Naive CD4+ and CD8+ T Cells Decreased Chronic Viral Infections Caused by Mutation in the Paired Box 2 Gene Small Kidneys Biopsy Shows Effacement of Foot Processes Mutation in the PTPRF Gene Arched Eyebrows with Laterally Inverted V-Shape Pointed Upper Helix Unilateral Absence of Breast Tissue Unilateral or Bilateral Hypoplasia or Aplasia of Nipples Mutation in the BBIP1 Gene Early Onset Severe Renal Disease Mutation in the Serologically Defined Colon Cancer Antigen 8 Gene Recurrent/Chronic Respiratory Infections Abnormal Corticomedullary Differentiation Limited Clinical Information for MKS1 Mutations (as of October 2014) Mutation in the Tripartite Motif Containing Protein 32 Gene Cystic Kidneys (Possibly Prenatally) Renal Dysplasia Renal Abnormalities Dental Abnormalities Impaired Olfaction Renal Hypodysplasia Macrophage Infiltration of White Adipose Tissue Impaired Lipolysis Small Adipocytes Heterozygous Carriers Have an Increased Risk of Metabolic Dysfunction Mutation in the Hormone Sensitive Lipase Gene Abnormal Fat Accumulation in Neck Abnormal Fat Accumulation in the Clavicular Regions Abnormal Fat Accumulation in the Labia Majora Abnormal Fat Accumulation below the Triceps Abnormal Fat Accumulation in the Back Abnormal Fat Accumulation in Axillae Reduced Lower Limb Subcutaneous Fat Adiponectin Increased Caused by Mutation in the F-Box Only Protein 31 Gene Thick, Prominent Lips Fleshy Nares Progression of Phenotype with Age