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