46401 to 46500 most common queries

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

• Thrombocytopenia at Birth
• Both Upper and Lower Limb Involvement
• Pruritus Secondary to Liver Disease
• Visual and Hearing Loss Are Slowly Progressive
• Severe Metaphyseal Changes of Long Bones
• Coarse Hair
• Pseudoosteoarthritis
• No Myoclonus
• Urinary Excretion of Neutral 17-Ketosteroids Low
• Androgen Levels Normal
• Pediatric Systemic Lupus Erythematosus
• Talipes Equinovarus in Infancy
• Snow Blindness
• Free Cyanocobalamin in Fibroblasts Increased
• Osteochondromatosis - Knee
• Later Onset Has Been Reported - Third or Fourth Decade
• Photophobia (Early Symptom)
• Vaginal Atresia
• Genetic Anticipation Associated with Progressive Telomere Shortening
• Residual Neurologic Deficits Are Slowly Progressive
• Sparse to Absent Eyebrows
• Distal Ulnar Shortening
• Polyarticular Chondrocalcinosis (Cartilage Calcification)
• Hypermobility of Small Joints
• Mild, Diffuse Cerebral Atrophy
• Ovaries Lack Follicles
• Activity of Methionine Synthase Decreased
• Elongated Vertebrae
• Onset Usually in First or Second Decades
• Chewing Problem
• Estradiol Non-Detectable
• Broad Nasal Fossae
• Pure Red Cell Aplasia
• Acute Episodes Decrease with Age and Disappear
• Variable Penetrance and Expressivity
• Blurred Vision (Early Symptom)
• Hair Stops Growing at a Few Inches
• Mutation in the TITF1 Gene
• Normal Early Development
• Atrophy of the Spinal Cord and Cerebellar Tracts
• Metaphyseal Corner Fractures of Long Tubular Bones
• Y-Descent Abrupt
• Activity of Methylmalonyl CoA Mutase Decreased
• Abnormal Pupillary Light Reflexes
• Hypermobility of Shoulders
• Meningococcal Infection
• Luteinizing Hormone Levels Elevated
• Lacrimation - Early Symptom
• Phytanic and Pristanic Acid Normal
• Acute Vision Loss due to Optic Nerve Infarction
• Motor Incoordination
• Beard and Moustache Hair Normal
• Hypertrophy of First Ray
• Movements Exacerbated by Anxiety
• Severe Hypotrichosis
• Developmental (Progressive) Coxa Vara
• Caused by Mutation in the Cathepsin C Gene
• Brainstem Auditory Evoked Potentials Prolonged
• Tendon Abnormalities
• See Also CblD
• Chronic Left-Sided Congestive Heart Failure
• Benign Condition
• Gastroenteritis
• Distal Muscle Atrophy due to Neurologic Disease
• Pseudocleft of the Columella
• Proximal Megaepiphysis of Metatarsal Bones
• Open Spina Bifida (Myelomeningocele)
• Gait Abnormalities May Occur
• Mutation in the Human Homolog of the Mouse Progressive Ankylosis Gene
• Widespread Interstitial Fibrosis
• Obligatory Heterozygotes Are Clinically Unaffected
• Possible Gonadal Mosaicism in One Report
• Mild Osteopenia in Childhood
• Variable Response to Vitamin B12 Therapy
• Distal Sensory Impairment of Touch, Vibration, Proprioception
• Normal Nails
• Aphthous Ulceration
• Molding Disturbance of Metacarpal Bones
• May Fade with Age
• Reported in a Large Hutterite Family
• Posterior Choanal Stenosis
• Dysarthria May Occur
• Corneal Endothelial Dystrophy (Cornea Guttata)
• Desmosomal Disks Observed in Upper Granular Layers
• Cardiac Conduction Abnormalities
• Abnormal Electrophoretic Mobility of Collagen Type II
• Small Mouth in Infancy
• Partial or Total Agenesis of the Corpus Callosum (33%)
• Thick, Full Lips
• Early Onset: More Severe Course and Early Death
• Comedo-Like Remnant Hair Follicles
• Proximal Lower Limb Involvement
• Candidiasis
• Frequency and Severity of Symptoms Do Not Worsen with Age
• Mother Had Rubella Infection during Pregnancy with Daughter
• Does Not Lead to Hepatic Failure
• Polydactyly Type A
• Lesions Grow and Spread with Age
• 'Banana Peel' Configuration of Distal Radius
• Variation in Amount Size and Ultrastructure of Keratohyaline Granules