35201 to 35300 most common queries

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

• Decreased CD3+ Cells Subset
• Abnormally Delayed Hypersensitivity in Skin Test
• Moderately Depressed Antibody Response to Polysaccharide Antigens
• Shovel-Shaped Maxillary Central Incisors
• Long, Slender Phalanges
• Long Slender Metacarpals
• Hypoplastic Distal Digital Creases
• Elbow Contracture
• Small Anterior Cranial Fossa
• Joint Contractures (Symptom Improves with Time)
• Downslanting Eyebrows
• Caused by Mutation in the Proprotein Convertase 1 Gene
• Proglucagon Increased
• Increased Plasma Progastrin
• Insulin Decreased or Normal
• Small Intestine Biopsy Shows Villous Atrophy
• Malabsorption - Small Intestine
• Impaired Processing of Proopiomelanocortin
• Joint Replacement Often Necessary
• Onset of Symptoms in Childhood with Stiff, Painful Joints
• Creatine Phosphokinase Mildly Increased
• Late Ossifying Epiphyses
• Impaired Synthesis of Sulfated Proteoglycans by Fibroblasts
• No Cartilage Staining with Toluidine Blue
• Marked Shortness - Broad Tubular Bone
• Unossified Ischium and Pubis
• Slightly Less Ossified than Expected for Gestational Age
• Often Stillborn
• Occasionally Rib Fractures
• Symptoms Precipitated by Stress, Exertion, Fatigue, Alcohol
• Onset at Age 2-15 Years
• Second Most Common Form of Usher Syndrome Type 1
• Nonsyndromic Disorder
• Caused by Mutations in the Otoferlin Gene (OTOF)
• U- or Bowl-Shaped Audiogram
• Absent Auditory Brainstem Response
• Severe to Profound Sensorineural Deafness
• Upper Limb Defects
• Cervicothoracic Vertebral Defects - Especially C5-T1
• External Ear Defects
• Short Stature (Adult Height <152 cm)
• Absent Proximal 2/3 of Vagina
• Associated with the Tau H1 Haplotype
• Phenotypic Overlap with Frontotemporal Dementia
• May Show Good Response to Levodopa
• Median Survival: 5-7 Years
• Tau Inclusions Are 'Flame-Shaped' or 'Tuft-Like'
• Tau Immunoreactive Inclusions in Neurons and Astrocytes
• Limb Dystonia (18%)
• Tremor (30%)
• Small Dysplastic Nails
• Hypoglycosylation of Plasma Glycoproteins
• Abnormal Isoelectric Focusing of Transferrin
• Broad Flat Bridge
• Decreased Amplitudes in Electroretinography
• Incomplete Penetrance of Optic Atrophy
• Later Onset of Optic Atrophy
• Mutations in the Mitofusin 2 Gene
• Scoliosis in Severe Cases
• Recovery of Visual Acuity in 60% of Patients
• Axonal Degeneration and Regeneration (Nerve Biopsy)
• Weakness during Pregnancy in Affected Females
• Onset in First to Third Decade
• Dysplastic Hips
• Dysplastic Skull Base
• Caused by Mutation in the Plakoglobin Gene
• Dense Rough and Bristly Hair
• Thick Short Pedicles
• Scalp Hair Quality Improves during Pregnancy
• Variable Heat Tolerance
• Flaked, Cracked, Missing Cuticular Scales
• Thin Slow-Growing Scalp Hair
• Hypoplasia of Sweat Glands
• Hypoplastic Pilosebaceous Units
• Normal Sweating Capacity
• Flexural Acanthosis Nigricans
• Cranial Hyperostosis
• Hypodontia (Secondary Teeth)
• Multiple Natal Teeth
• Thin, Sparse Eyelashes
• Sparse Thin Eyebrows
• Familial Form
• Death in Fourth to Fifth Decade
• Mean Age of Onset 34 Months
• Mutation in the Myotubularin-Related Protein 2 Gene
• Irregular Loops and Focal Folding of Myelin Sheaths
• Motor Nerve Conduction Velocity Severely Decreased
• Mutation in the CDH23 Gene
• No Retinitis Pigmentosa
• Autosomal Dominant and Autosomal Recessive Forms
• Caused by Mutation in the Desmin Gene
• Biopsy Shows Degenerative Changes Consistent with Myopathy
• Affected Muscles Show Atrophy
• Short Anagen Phase of Hair Cycle
• Narrow Hair Shaft
• Cuticular Scale Absent
• Borderline Microcephaly (3rd Percentile)
• First Described in Gypsy Group from Bulgaria
• Deafness (often in Third Decade)
• Severely Reduced Nerve Conduction Velocities