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Muscle Biopsy Shows Decreased Postsynaptic Membrane Density Size of Endplates Decreased (Muscle Biopsy) Muscle Biopsy Shows Decreased Size of Nerve Terminals Frequency of MEPP Decreased Miniature Endplate Currents Prolonged Multiple CMAP Response to Single Nerve Stimulation Weakness Is Exacerbated by Exertion Generalized Weakness due to Defect at the Neuromuscular Junction Onset in Second to Fifth Decade Thymidine Increased Thymidine Phosphorylase Activity Decreased Chronic Intestinal Pseudoobstruction Thin Body Habitus Sensorimotor Axonal-Demyelinating Neuropathy Hypodensity of Cerebral White Matter (MRI) Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol Glucosyltransferase Deficiency Transaminases during Infections Elevated Diagnosis Requires 3 Major Features and at Least 3 Minor Features White Dermatographism Palmar Hyperlinearity Nipple Dermatitis Infraorbital Fold - Dennie-Morgan Lines Cutaneous Infections - Staphylococcus Aureus, Herpes Simplex Hand Dermatitis (non Allergic Irritant) Eczema - Perifollicular Accentuation Facial or Extensor Involvement in Infants and Children Flexural Lichenification in Adults Immediate Skin Test Reactivity Orbital Darkening Recurrent Conjunctivitis Prominent Psychiatric Symptoms Mean Age at Onset 28 Years Insertion of 8 Extra Octapeptide Repeats in the Prion Protein Gene Mild Spongiosis Fibrillary Plaques in the Cerebellar Cortex Urine cAMP Response to PTH Decreased Renal Resistance to PTH Large Sella Turcica Open Cranial Sutures Midline Nasal Cleft Coloboma of the Upper Eyelid Thick Philtrum Adult Onset (2nd to 6th Decade) Age at Onset 14 to 44 Years Caused by Mutations in the Tumor Protein 63 Gene Aplastic or Hypoplastic Breasts Vestibular Aqueduct Dilated Severe Delay in Phalangeal Epiphyseal Bone Maturation Prominent Distal Phalangeal Tufts Long Slender Middle and Proximal Phalanges Gracile Metacarpals Severely Delayed Patellae Ossification Irregular Flared Metaphyses with Streaky Sclerosis Small Flattened Irregular Epiphyses Large Joint Dislocations (Especially Knees) Tapered Ischia Narrow Femoral Necks Small, Flattened Capital Femoral Epiphyses Sacral Spinal Dysraphism IgA Very Low IgG Very Low Defect in VDJ Recombination Process Hypoplastic Thymus Which Often Lacks Hassal Corpuscles Variable Number of Activated CD45RO+ DR+ Circulating T Cells B-Cell Count Severely Decreased Frequency of Bacterial Viral and Fungal Infections Increased Nuchal Skin Folds Onset of Hearing Loss in Late Childhood or Adolescence Cochleosaccular Dysplasia Moderate to Severe Deafness - Onset in Third Decade High-Frequency Hearing Loss Thin Hyperpigmented Skin Skull Defect at Vertex Imperforate Vaginal Hymen >99% of Mutations: FGFR3, G380R 80% Cases New Mutations Autosomal Dominant with Complete Penetrance Mutation in the Fibroblast Growth Factor Receptor 3 Gene Flat Rooted Acetabulae Narrow Sacroiliac Groove Dysplastic Ilium Progressive Interpediculate Narrowing in Lumbar Spine Congenital Spinal Stenosis due to Short Pedicles - Especially Lumbar Exaggerated Lumbar Lordosis during Childhood and Adulthood Recurrent Otitis Media in Infancy and Childhood Mean Female Height: 124 cm Mean Male Adult Height 131 cm Hypotonia in Infancy and Early Childhood Occasional Hydrocephalus Light-Induced Sneezing Distally Broad Hallux Broad Distal Phalanx of Thumb Choanal Atresia or Stenosis Mutation in the TWIST Transcription Factor Gene Intracranial Hypertension due to Multisutural Cranial Fusion Syndactyly - Often 3rd - 4th Toes 1st Metatarsal Absent Bifid Terminal Phalanges - Digits 2 and 3 Mild Syndactyly Large Ischium