27201 to 27300 most common queries

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

• Mutation in the TMEM138 Gene
• 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