31301 to 31400 most common queries

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

• Cerebrospinal Fluid Sepiapterin Elevated
• Cerebrospinal Fluid 5-Hydroxyindoleacetic Acidin Decreased
• Sepiapterin Reductase Deficiency (Fibroblasts)
• Dystonia with Diurnal Variation
• Long, Narrow Palpebral Fissures
• Choroidoretinal Degeneration
• Stippled Pigmentation
• Mild Hearing Impairment
• Small Intestinal Septum
• Jejunal Web
• Stenosis of Common Bile Duct
• Dilated Intrahepatic Bile Ducts
• Portal Inflammation
• Large Duct Obstruction
• Liver Biopsy: Ductal Proliferation
• Obstructive Liver Disease
• Four Cases Have Been Reported - All Female
• Hypertrophy of Branches of the Hepatic Artery
• Pruritus Secondary to Liver Disease
• Broad Nasal Fossae
• Prominent Trapezius Muscles
• Hypertrophy of First Ray
• Proximal Megaepiphysis of Metatarsal Bones
• Molding Disturbance of Metacarpal Bones
• Polydactyly Type A
• Long Bones Have Thin Cortices
• Variable Fever
• Tetanus-Like Muscle Contractions
• Neck Muscle Hypertonia
• Large Face
• Facial Trismus
• Severe Contractions of the Facial Muscles
• Mutation in the SDHAF2 Gene
• Variable Cognitive Function
• Mutation in the GAMT Gene
• Guanidinoacetate Methyltransferase Deficiency
• Accumulation of Guanidinoacetate in Brain
• Deficiency of Creatine Phosphate in Brain
• Cerebrospinal Fluid Creatinine Decreased
• Cerebrospinal Fluid Creatine Decreased
• Extremely Low Creatine Excretion
• Speech Development Absent or Limited
• Developmental Delay or Regression
• Thickening of the Lower Alveolar Ridge
• Malnutrition due to Poor Feeding
• Speech Difficulties due to Hypoglossia
• Onset of Seizures in First Months of Life
• No Hypertension
• Hypomyelination of Sural Nerve
• Some Patients Do Not Achieve Ability to Walk
• Mutation in the TMEM142A Gene
• Defective Enamel Development
• Partial Iris Hypoplasia
• Immunoglobulin Levels Normal
• T Cell Proliferative Response Impaired
• T-Cell Activation Impaired
• Nonprogressive Myopathy
• Defective Platelet Adhesion with Normal Platelet Count
• Defective Neutrophil Adhesion to Endothelial Cells
• Alopecia Usually Occurs around Puberty
• Variable Age at Onset - Infancy to Adulthood
• Alopecia Beginning in the Occiput
• Perifollicular Inflammatory Infiltrate
• Follicular Hyperkeratotic Papules
• DHEA Sulfotransferase below Limit of Detection
• Dehydroepiandrosterone at Upper Level of Normal Range
• Androstenedione and Testosterone Increased
• Precocious Osteoarthropathy
• Mild Metaphyseal Changes of Knees and Hips
• Short and Bowed Legs
• Mutation in the Forkhead Box C1 Gene
• Iris Strands Attached to Schwalbe Line Bridging the Iridocorneal Angle
• Schwalbe Line - Posterior Embryotoxon
• Anteriorly Displaced Eyes
• Patchy Reticular Stains
• Thick, Loose, Doughy Skin
• Thickened Subcutaneous Tissue
• Macrocephaly, Progressive in Infancy
• Asymmetric Somatic Overgrowth
• Dilated Venous Sinuses
• Thickened Optic Nerve Sheath
• Cortical Dysgenesis
• Crowding of the Posterior Fossa
• Cerebellar Tonsil Herniation
• Progressive Enlargement of Cerebellum
• MRI Shows Brain Asymmetry
• Penetrance Reduced
• Average Age at Onset 19 Years
• Mutation in the THAP Domain Containing Protein 1 Gene
• Dystonia (Upper and Lower Limbs)
• Jaw Dystonia
• Dystonia of Trunk and Limbs (Arms and Legs)
• Platelet Aggregation Decreased
• Body Height Decreased
• Blood Pressure Normal
• Onset of Essential Tremor between 16 and 44 Years
• Central Translucency of Distal Phalanges of Thumbs
• Cognitive Decline in Older Patients
• Caused by Mutation in the CLN5 Gene
• Mutation in the GAN Gene