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34401 to 34500 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
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