Sitemap | Symptoma 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
