Sitemap | Symptoma 23801 to 23900 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Alpha-1-Antitrypsin Deficiency Severe Rickets Caused by Mutation in the Tetraspanin 12 Gene Nasally Displaced Pupils Shallow Anterior Chamber Avascularity of Peripheral Retina Caused by Defect in the Solute Carrier Family 10 Bile Acid Malabsorption in the Ileum Fecal Bile Acid Increased Chronic Watery Diarrhea Dyspnea due to Respiratory Muscle Weakness Mutation in the NT5C2 Gene Hyperextension of Knees Onset of Disease within the First Year of Life Enteric Fistula Severe Enterocolitis in the First Year of Life Often Death in Adolescence Life Expectancy Decreased Hypokinetic Movements Very Rarely Retinal, Hepatic, Pancreatic, and Renal Anomalies Thoracic Abnormalities Tend to Improve with Age Variable Severity Even within Families Respiratory Problems due to Small Thorax Defect in Retrograde Intraflagellar Transport in Cilia Hypoplastic Ulna Bifid Tongue Cleft Lip - Cleft Palate Cystic Pancreas Biliary Dysplasia Shortened Ribs Cloacal Developmental Abnormalities Fatal without Bone Marrow Transplantation High EBV Viral Load CD4+ T Cells Depleted Natural Killer T Cells Decreased ITK Protein in Lymphoid Tissue Decreased Increased Risk for Hodgkin Lymphoma Optic Disc Abnormalities Fine Iris Processes Extending to Schwalbe Line for 360 Degrees Anterior Iris Surface and Stromal Abnormalities Flattened Corneal Topography Posterior Amorphous Corneal Dystrophy, Extending to Corneal Limbus Subepithelial Opacities and Haze Most Dense Centrally Production of Cytokines by T Cells Decreased Respiratory Difficulties, Upper Airway Obstruction Favorable Response to Oral Creatine Treatment Plasma and Urine Guanidinoacetate Decreased Muscle Biopsy Shows Fiber Type Variation Muscle Weakness Predominantly Proximal Brain Creatine Content Decreased (MRS) Symptoms Improve with Sleep Autonomic Signs Mutation in the SYNGAP1 Gene Minimum Duplication Includes BHLHA9 Marked Phenotypic Variability Even within an Individual Duplication of 120-527 kb on 17p13.3 Toe Hypoplasia or Aplasia Camptodactyly - Third and Fourth Digits Syndactyly Third and Fourth Digits Monodactyly Distal Femoral Bifurcation Tibial Aplasia or Hypoplasia Onset in Infancy up to 3 Years Gait Impairment Contiguous Gene Deletion Syndrome Hypotonic Face Immunosuppressive Therapy May Be Beneficial Relapsing-Remitting Course Exacerbations During Infection Onset in Infancy - 3 to 7 Months Caused by Mutation in the CD59 Antigen Gene Absence of CD59 Expression on Red Cells Secondary Axonal Damage Partial Cleft Palate (Homozygotes) Mild to Severe Mixed Hearing Loss Near Stenosis of Bony Portion of Auditory Canal in Homozygotes Severe Narrowing of Cartilagenous Auditory Canal in Homozygotes Obliteration of Peripheral Retinal Blood Vessels Fundus Pigment Lumps Bone Corpuscle/Bone Spicule Pattern Complete Blindness at Age 40-50 Years Loss of Central Vision at Age 25-30 Years Night Blindness by Age 20 Years Constricted Visual Fields by Age 20 Years Dystonic Vocal Tremor Spinal Cord Atrophy Caused by Mutation in the AARF Domain Containing Kinase 3 Gene High Prevalence Among French Canadians Caused by Mutation in the Methionyl-tRNA Synthetase 2 Gene Mutation in the Kinesin Family Member 1C Gene Regression in Infancy Global Muscle Weakness Variable Abnormalities Diagnosis in Early Childhood Sloping Acetabula Heterozygous Mutation Carriers May Show Mild Symptoms No Ichthyosis Lipid Vacuoles in Leukocytes (Jordans' Anomaly) Vacuoles Containing Neutral Lipids Seen on Muscle Biopsy Difficulty Raising Arms Proximal Limb Weakness Followed by Distal
