Sitemap | Symptoma 27201 to 27300 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Caused by Mutation in the 41 kD Centrosomal Protein Gene Mild Liver Abnormalities Episodic Metabolic Decompensation Mutation in the LIAS Gene Urine Glutaric Acid Increased Increased Urinary and Serum Glycine Lipoic Acid Decreased Pyruvate Oxidation Defects (Biopsy) Episodic Encephalopathy Episodic Lactic Acidosis Thiamine Supplementation May Be Beneficial Some Features Possibly Progressive Caused by Mutation in the Thiamine Pyrophosphokinase Gene Urine α-Ketoglutaric Acid Intermittently Increased Thiamine Pyrophosphate Decreased Pyruvate Oxidation Defect Loss of Speech Encephalopathic Episodes Often Associated with Infection Collodion Membrane at Birth High Myopia Abnormal Visual Evoked Potentials Delayed Myelination Myoclonic Seizures Median Age at Onset of Proteinuria: 18 Years (Range: 10-21) Caused by Mutation in the Inverted Formin 2 Gene Distal Upper and Lower Limbs Amyotrophy Sural Nerve Biopsy Shows Axonal Loss Distal Limb Muscle Weakness due to Peripheral Neuropathy Decreased Basal Metabolic Rate Slow Monotonous Speech Resting Blood Pressure Low Low Resting Heart Rate Mild Hypermobility and Ligamentous Laxity at Knee and Ankle Femoral Epiphyseal Dysgenesis Subischial Leg Length with Normal Sitting Height Decreased Multiple Wormian Bones Patent Anterior Fontanel Fusion of Cranial Sutures Delayed Intestinal Transit Delayed Dilated Bowel Growth Deficit Affecting Lower Segment of Body Muscle Tone Reduced but Power Normal Placid Affect Slow Broad-Based Gait Difficulty with Writing and Drawing Gross and Fine Motor Coordination Impaired Insulin-Like Growth Factor Slightly Decreased Normal Growth Hormone Response to Provocative Testing Sex Hormone Binding Globulin Markedly Elevated Total Thyroxine to Total Triiodothyronine Ratio Markedly Low Total and Free Thyroxine Low Normal or Subnormal Manifestations Present in Second Decade of Life Urine PGE-M Relatively Low Urine PGE2 Levels Elevated Cortical Thickening and Acroosteolysis Loss of Normal Tabulation of Metacarpals and Phalanges Sclerosis of Distal Tibiofibular Joint Sclerosis of Distal Femur Patellar Sclerosis Periosteal Hyperostosis of Knee Progressive Thickening and Furrowing of Facial Skin Mutation in the NK2 Homeobox 5 Gene Abnormal Pulmonary Venous Return to Right Atria Sinus Venosus Type Atrial Septal Defect Atrial Septal Defect Type Secundum Rastelli Type A Endocardial Cushion Defect Mutation in the GATA4 Gene Atrioventricular Conduction Defect Death Often Occurs in the First Decade Caused by Mutation in the Transmembrane Protein 237 Morning Glory Disc Anomaly Cerebellar Vermis Aplasia or Hypoplasia Small Midbrain Posterior Fossa Abnormalities Severely to Profoundly Delayed Psychomotor Development Cuneiform Opacities in Lens Periphery Blue-White Dots Throughout Lens More Numerous in Cortex Increased Pigmented Nevi Carpal Bone Development Advanced Over That of Other Hand Bones Prominent Chin Crease Tonic-Clonic or Absence Seizures Childhood-Onset Systemic Lupus Erythematosus Seizures Remit in Later Childhood Mutation in the Carboxypeptidase A6 Gene Temporal Lobe Seizures Structural Changes in the Temporal Lobe Phenotype Is Worsened by Cold Temperature Papillary Dermal Edema Lymphocytic Vasculitis Angiomatous Lesions on the Fingers Persistent Severe to Profound Hearing Loss Affecting all Frequencies Cerebral Atrophy Mild Upper Limb Dysmetria Creatine Kinase Variably Increased Centralized Internal Nuclei Increased Muscle Cramps during Exercise Lower Limbs Muscle Weakness during Exercise Prolonged Capillary Refill Skin Mottling due to Poor Perfusion Crowded Toes
