26401 to 26500 most common queries

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

• Jejunal Web
• Stenosis of Common Bile Duct
• Dilated Intrahepatic Bile Ducts
• Portal Inflammation
• Liver Biopsy: Ductal Proliferation
• Four Cases Have Been Reported - All Female
• Hypertrophy of Branches of the Hepatic Artery
• Pruritus Secondary to Liver Disease
• Broad Nasal Fossae
• Hypertrophy of First Ray
• Proximal Megaepiphysis of Metatarsal Bones
• Molding Disturbance of Metacarpal Bones
• Polydactyly Type A
• Long Bones Have Thin Cortices
• Variable Fever
• Tetanus-Like Muscle Contractions
• Neck Muscle Hypertonia
• Large Face
• Facial Trismus
• Severe Contractions of the Facial Muscles
• Mutation in the SDHAF2 Gene
• Variable Cognitive Function
• Mutation in the GAMT Gene
• Guanidinoacetate Methyltransferase Deficiency
• Accumulation of Guanidinoacetate in Brain
• Deficiency of Creatine Phosphate in Brain
• Cerebrospinal Fluid Creatinine Decreased
• Cerebrospinal Fluid Creatine Decreased
• Extremely Low Creatine Excretion
• Speech Development Absent or Limited
• Developmental Delay or Regression
• Thickening of the Lower Alveolar Ridge
• Malnutrition due to Poor Feeding
• Speech Difficulties due to Hypoglossia
• Onset of Seizures in First Months of Life
• No Hypertension
• Hypomyelination of Sural Nerve
• Some Patients Do Not Achieve Ability to Walk
• Mutation in the TMEM142A Gene
• Defective Enamel Development
• Partial Iris Hypoplasia
• Immunoglobulin Levels Normal
• T Cell Proliferative Response Impaired
• T-Cell Activation Impaired
• Defective Platelet Adhesion with Normal Platelet Count
• Defective Neutrophil Adhesion to Endothelial Cells
• Alopecia Usually Occurs around Puberty
• Variable Age at Onset - Infancy to Adulthood
• Alopecia Beginning in the Occiput
• DHEA Sulfotransferase below Limit of Detection
• Dehydroepiandrosterone at Upper Level of Normal Range
• Precocious Osteoarthropathy
• Mild Metaphyseal Changes of Knees and Hips
• Short and Bowed Lower Limbs
• Mutation in the Forkhead Box C1 Gene
• Iris Strands Attached to Schwalbe Line Bridging the Iridocorneal Angle
• Anteriorly Displaced Eyes
• Thick, Loose, Doughy Skin
• Macrocephaly, Progressive in Infancy
• Dilated Venous Sinuses
• Cortical Dysgenesis
• Progressive Enlargement of Cerebellum
• MRI Shows Brain Asymmetry
• Penetrance Reduced
• Average Age at Onset 19 Years
• Mutation in the THAP Domain Containing Protein 1 Gene
• Platelet Aggregation Decreased
• Body Height Decreased
• Onset of Essential Tremor between 16 and 44 Years
• Central Translucency of Distal Phalanges of Thumbs
• Cognitive Decline in Older Patients
• Caused by Mutation in the CLN5 Gene
• Mutation in the GAN Gene
• Mutation in the WNT10A Gene
• Longitudinal Depressions on Microscopic Examination
• Dystrophic Fingernails
• Mild Acanthosis in Epidermis
• Hypergranulosis in Epidermis
• Hyperkeratosis in Epidermis
• Orthokeratosis in Epidermis
• Keratoderma of Palms and Soles
• Severe Hypodontia
• Reduced, Filiform Papillae
• Fungiform Papillae Reduced
• PEO is Not Always Present
• Increased Prevalence in Individuals of Jewish-Iraqi Origin
• Neurologic Features Occur Later in Childhood
• Onset of Optic Atrophy in Infancy or Early Childhood
• Mutation in the OPA3 Gene
• Urine 3-Methylglutaconic Acid Increased
• Onset of Fractures in Infancy to Early Childhood
• Joint Laxity (Fingers and Wrist)
• Congenital Joint Contractures - Knee Ankle Hip Elbow
• See Also Pachyonychia Congenita Type 3
• Hard, Thickened Nails (Pachyonychia)
• Recurrent Shedding of Nails
• Episodic Inflammatory Swelling of Nail Bed
• No Hyperhidrosis
• No Palmoplantar Hyperkeratosis
• Horny Papules (Face, Legs, Buttocks)