46501 to 46600 most common queries

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

• Natural Aversion to Carbohydrates and Favoring of Protein
• Ventricular Anomalies
• Nodal Tachycardia
• Frequency in Ashkenazi Jews Increased
• Sparse Eyelashes
• Anterior Segment Anomalies
• Onset Usually in First Year of Life
• Skin Patch
• Possibly Distal Upper Limb Involvement (Later)
• Pneumatocele Formation
• Slight Contractures of Distal Interphalangeal Joints
• Episodes Typically Occur Several Times a Week
• No Preceding Skin Inflammatory Stage
• Nerve Biopsy showing Axonal Neuropathy
• Broad Cupped Metaphyses
• Resolution of Symptoms Usually at Age 6-12 Months
• Polygyria
• Differential Blood Count Abnormal
• Cobalamin Decreased in Liver, Kidney, and Cultured Fibroblasts
• Variable Eye Anomalies
• Sparse Eyebrows
• Highly Variable Phenotype, Adults Possibly Asymptomatic
• Tetanus-Like Muscle Contractions
• Some Patients May Become Wheelchair Bound
• Cold Abscesses Lacking Erythema, Heat, and Swelling
• Ulnar Deviation of Fingers
• Orthohyperkeratosis of Horny Layer
• Episodes May Last Less than 30 Minutes or More than Several Hours
• Numbers of Melanosomes in Keratinocytes Increased
• Mutation in the SLC25A13 Gene
• Mutations in the Homolog of the Mouse Noggin Gene
• Cobalamin Normal
• Small Thin Cerebellum
• Resorption of Primary Tooth Roots Reduced
• Absence of Transverse Pontine Fibers
• Tonofibrils Increased
• Facial Asymmetry from Adolescence
• Possibly Later Onset
• Mutation in the Myosin Heavy Chain 3 Gene
• Chest Discomfort
• Episodes Begin with Muscle Tightening
• Large Face
• Painless Testicular Mass
• Myopia (in Brother)
• No Incontinence of Pigment
• Platonychia
• Onset between First and Second Decade
• Death Usually in the Perinatal Period
• Large, Floppy Ears
• Age at Onset Most Often in Childhood - First Decade
• Cholesterol Increased
• Most Common Muscle Disease in Older Persons
• Testicular Mass
• Protruding Jaw from Adolescence
• Precocious Arthrosis
• Granular Layer Focally Broadened
• Lower Lip Cysts
• Cerebellar Hypoplasia Particularly of the Hemispheres
• Facial Trismus
• Lung Hypoplasia Secondary to Oligohydramnios
• Early-Onset Severe Scoliosis
• Lunulae Poorly Developed or Absent
• Sensorineural Hearing Loss (in Sister)
• Thrombotic Microangiopathic Nephropathy
• Restrictive Impairment
• Numbers of Basal Melanocytes Normal or Mildly Increased
• Scrotal Mass
• Microretrognathia in Infancy
• Multimerin Decreased
• Inability to Sit or Control Head
• Lingual Petechiae
• Knuckle Pads on Dorsal Finger and Toe Joints
• Muscle Biopsy Shows Inflammation with T Cells
• Severe Contractions of the Facial Muscles
• Free Margin Notched or Split
• Large Cytoplasmic Schwann Cell Extensions around Axons
• Congenital Ankyloblepharon Filiforme
• Dilated Bile Ducts
• Extrapyramidal Symptoms - Later Onset
• Hyperpigmented Whorls
• No Verbal Language Development (in Sister)
• Diffuse Pulmonary Infiltrates
• Beta-Thromboglobulin Normal
• Seminoma
• Complete Alopecia in Approximately 75% of Patients
• Duodenal Obstruction due to Malrotation
• Mutation in the SDHAF2 Gene
• Muscle Atrophy Especially Quadriceps and Forearm Muscles
• Hyperplastic Biliary Ducts
• Isolated Cases (75-80%), Familial (10-15%), and Syndromal (1-5%)
• Gingival Fibroma
• Bluish-Red Border Demarcating Transition to Normal Skin
• Confusion - Later Onset
• Bone Marrow Gaucher Cells
• Hyperpigmented Streaks Following Lines of Blaschko
• Usually Asymptomatic
• Severe Stuttering
• Reddish Dome-Shaped Prominence at Origin of Ridges
• Testicular Biopsy Abnormal
• Normal Thrombospondin