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33601 to 33700 most common queries

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

Calcified Patellae Metaphyseal Flaring - Distal Femora, Proximal Tibiae Short Sciatic Notch Calcified Body and Greater Cornua of Hyoid Calcified Cricoid Cartilage Calcified Thyroid Cartilage Calcified Stylomandibular Ligaments Calcified Styloid Process Broad Nares Calcified Coracoacromial Ligament Calcified Coracoclavicular Ligament Tetramelia Hypoplastic Lacrimal Duct Patients with Later Onset Do Not Have Dysmorphic Features Mutation in the MMACHC Gene Rare Skin Cancers Seborrheic Keratosis-Like Papules Defective DNA Repair after Ultraviolet Radiation Damage Complex II Activity Normal Neonatal Lethargy Reduced Brain Gyri Severe Speech Delay Esophageal Peristalsis Decreased Proline Oxidase Deficiency Dystonic Tremor 11 Ribs Bile Duct Dilatation Hypotrichosis of the Scalp Number of B Cells Normal Mutation in the Endothelin Receptor Type B Gene Potassium Sensitivity Has Been Reported Usually No Myopathic Changes on Biopsy Muscle Action Potential Decreased after Warming Affected Muscle Paradoxical Myotonia - Myotonia Increases with Exercise Patella Aplasia - Hypoplasia Fifth Finger Distal Interphalangeal Joint Symphalangism Duckbill Lips Arched Eyebrows Hirsutism - Especially on Limbs Cutis Laxa - Hands and Feet Generalized Bronze Hyperpigmentation Valgus Deformity of Ankle Sclerotic Metaphyseal Changes Irregular Metaphyseal Ossification Short Deformed Tubular Bones Flat Irregular Acetabular Roofs Ovoid Thoracic and Lumbar Vertebrae Small, Flat Cervical Vertebrae Irregular Sclerotic Endplates Thick Mandibular Condyles Thick Ethmoid Bones Thick Maxilla Marked Retardation in Skeletal Maturation Disproportionately Large Ears Mutations in the LBR Gene Ventricular Septal Defect - Homozygote Coarse Granulocyte Chromatin Ovoid Granulocyte Nuclei (Homozygotes) Hypolobulated Granulocyte Nuclei Short Metacarpals (Homozygotes) Homozygous Polydactyly Prominent Forehead (Homozygous) Seizure Disorder (Homozygote) Developmental Delay (in Homozygotes) Orthostatic Hypotension due to Autonomic Dysfunction Decreased Sweating due to Autonomic Dysfunction Abnormal Bowel Regulation due to Autonomic Dysfunction Abnormal Bladder Regulation due to Autonomic Dysfunction Impotence Due to Autonomic Dysfunction Lack of Inflammatory Infiltrate Astrocytes Show Reactive Changes Numbers of Astrocytes Decreased Oligodendrocytes with Foamy Cytoplasm Cavitating White Matter Degeneration Brain Imaging Shows Decreased White Matter Density Symmetric Demyelination Diffuse Leukoencephalopathy Loss of Fine Motor Skills Absent Twelfth Rib Small First Ribs Onset Third-Fourth Decade Mutation in the ATP2C1 Gene Suprabasal Acantholysis Skin Blisters and Erosions Variable Expression Median Age at Diagnosis 7 Years Severe Progressive Ulceration of Lower Extremities Allelic Disorder to Hyperkalemic Periodic Paralysis Penetrance in Females Reduced One Third of Cases Are Sporadic Onset Usually in Second Decade Hypokalemia Occurs during Paralytic Attacks Acetazolamide May Worsen Symptoms Tubular Aggregates in Muscle Fibers May Occur Vacuolar Myopathy May Occur Myotonia is Usually Not Seen Commonly Progressive Interictal Weakness Attacks Relieved by Potassium Administration Attacks May Present during or after Sleep Attacks Last 4-24 Hours