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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