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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