33601 to 33700 most common queries

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

• Transmural Granulomatous Inflammation with Skip Lesions
• 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