Sitemap | Symptoma 29801 to 29900 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Vacuolar Degeneration Mutation in the MLYCD Gene Branchial Dysplasia Interlobular Bile Duct Deficiency No Atherosclerosis, Cardiac Ischemia, or Metabolic Abnormalities Prominent Subcutaneous Venous Patterns Sparse to Absent Scalp Hair (Onset in Second Decade of Life) Osteolysis of Distal Phalanges Osteolysis of Radii Severe Osteolysis Mandibular Osteolysis Osteolysis of Ribs Osteolysis of Clavicles Generalized Lipoatrophy Spontaneously Resolves by 5 to 6 Months of Age Mutation in the HBG2 Gene Reticulocytosis Hemoglobin Oxygen Saturation Decreased Oxygen-Binding Capacity of Hemoglobin Decreased Mutation in the BTBD12 Gene Hypopigmentation Spots Isolated Thrombocytopenia Absent Thumbs Squamous Cell Carcinoma Malformed Auricle Hypoplastic Malleus Pelvic Kidney Amnesia for Events Sleep Terrors Usually Remit during Adolescence Onset of Sleep Terrors at Age 4-12 Years Sleepwalking Triggered by Alcohol, Sleep Deprivation, Stress Sleepwalking Usually Remits in Adolescence Onset of Sleepwalking between 4 and 8 Years Old Association with Autoimmune Diseases C3 Nephritic Factor Autoantibodies Mutation in the CFD Gene Decreased Activity of Complement Factor D Complement Factor D Decreased Mutation in the Cyclin M2 Gene Mutation in the BCL2-Associated Athanogene 3 Gene Relatively Short Limbs Multiple Bone Deformities Open Anterior Fontanel Weight Less than 5th Centile Renal Stones, Bilateral As of Aprill 2011, 2 Patients Have Been Described in Detail Onset in Adolescence Mutation in the PRICKLE2 Gene Late Loss of Visual Acuity Distal Loss of Vibratory Sense Cerebral and Cerebellar Atrophy Reported in Individuals of Sephardic Jewish Ancestry Progressive Cerebral Atrophy (Anterior to Posterior) Mild Chorea Mutation in the CDC6 Gene Clinodactyly Fifth Toes Hypermobility of Fingers Hypoplastic and Irregular Tibial Epiphyses Hypoplastic and Irregular Femoral Epiphyses Knee Hypermobility Elbow Hypermobility Bilaterally Absent Helices Gastroesophageal Reflux in Early Infancy Abnormal Glenoid Fossa High Intellect Mutation in the ORC6 Gene Dyspnea Secondary to Thorax Morphology Abnormal Tibial Epiphyses Abnormal Femoral Epiphyses with Flat Metaphyses Abnormal Humeral Epiphyses with Flat Metaphyses Frontal Circular Lacuna Mutation in the PDE6B Gene Abnormal Rod and Cone Electroretinograms Retinal Vessels Attenuated Proximal Interphalangeal Camptodactyly of Fifth Fingers Hyperextensible Joints - Especially Elbows and Knees Small External Auditory Meatus Feeding Problems in Early Infancy Mild Hypoplastic Labia Majora No C8 Antigen Detected Recurrent Neisseria Infections (History) Mutation in the Complement Component 3 Gene Decreased C3 Antigen C3 Activity Decreased Sudden Cardiac Death in Some Families Genetic Heterogeneity - See Familial Hypertrophic Cardiomyopathy Type 1 Caused by Mutation in the Cardiac Troponin I Gene Ventricular Preexcitation - Wolff Parkinson White Apical Hypertrophy Vertebral Borders Rounded Anteriorly and Posteriorly Falx Cerebri Precocious Calcification of Mutation in the CENPJ Gene Prominent Nasal Spine Intellectual Impairment Uveal Effusion Macular Pigment Migration Reduction of Capillary-Free Zone Papillomacular Retinal Fold Elevated Foreshortening of Axial Length of Eyes Mildly Delayed Motor Development due to Vestibular Dysfunction
