26701 to 26800 most common queries

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

• Increased Mobility of Facial Skin
• Seizures May Improve with Age
• Seizures Are Usually Refractory at First
• Some Patients Show Delayed Development from Birth
• Mutation in the ROGDI Gene
• Multifocal Epileptiform Discharges
• Acute Intraocular Hypertension
• Transillumination of the Iris
• Enlarged Corneal Diameters
• Iris Crypts and Clefts Underdeveloped
• Flat Appearing Iris
• Mutation in the ADAMTS-Like Protein 4 Gene
• Uncomplicated Ectopia Lentis
• Presence of Additional Features Is Variable
• Renal Aplasia
• About Half of Patients Report Vestibular Symptoms
• Both Recessive and Dominant Inheritance Reported
• Mutation in the SLC7A9 Gene
• Mutation in the Solute Carrier Family 3 Member 1 Gene
• Urinary Excretion of Lysine, Arginine, and Ornithine Increase
• Urinary Excretion of Cystine Increased
• Broad and Poorly Defined Gyri
• Mutation in the FRAS1 Gene
• Skeletal and Facial Features Are Variable
• Abnormal Septum Pellucidum
• Thalamic Hypoplasia
• Mutation in the MEOX1 Gene
• Some Patients Do Not Achieve Independent Ambulation
• Reactive Gliosis
• Abnormal Purkinje Cells
• Atrophy of the Granular Cell Layer of the Cerebellum
• Associated with Increasing Age
• More Commonly Observed in Women
• Aneuploidy of the X Chromosome
• Premature Centromere Division of Metaphase X Chromosome
• Malformed Phalanges
• Total or Partial Syndactyly
• Fused Ulna and Radius
• Intelligence Is Normal
• Skin Changes Progress in Childhood
• Spiny Follicular Plugging
• Pseudoainhum Formation
• Contractures of Digits due to Skin Tightening
• Mutation in the RNU4ATAC Gene
• Possibly Dystonia Only
• Situs Abnormalities
• Mutation in the ARG1 Gene
• Patients Have No Abnormalities of Hair Teeth or Bone
• Pancreatic Fibrosis
• Mutation in the H19 Gene
• Hyperpyrexia Usually Associated with Anesthesia
• Myosin Storage Myopathy
• Mild Growth Deficiency
• Late-Onset Arthralgia
• Late-Onset Osteoarthritis
• Lesions Occur Mainly on the Pinnae of the Ears or on the Face
• Coarse Hyalinized Collagen Bundles in a Whorled Pattern
• Flattened Overlying Epidermis
• Mutation in the LMBR1 Gene
• Onset of Myopia in Adolescence
• Mutation in the TBX3 Gene
• Thin Pituitary Stalk
• Onset around Adolescence
• Column of Parakeratotic Cells Overlying Absent Granular Layer
• Central Atrophic Area Has a Peripheral Keratotic Ridge
• Bilateral Ectropion
• Scaly Scalp
• Nails Palms and Soles Are Spared in Some Patients
• Progression Usually in Cephalocaudal Direction
• Male to Female Ratio of 3:2 in Childhood Cases
• Nail Plate Thickening
• Discoloration - Yellow, Brown
• Mononuclear Cell Infiltrates in the Dermis
• Focal Keratotic Plugging
• Mild Acanthosis with Broad and Blunted Rete Ridges
• Focal Hypergranulosis
• Focal Orthokeratosis
• Focal Parakeratosis
• Islands of Uninvolved Skin
• Erythematous Plaques Covered with Fine Powdery Scales
• Keratotic Follicular Papules
• Immunoglobulins Elevated - Particularly IgE
• Onset in the Fourth to Sixth Decades - Mean 40 Years
• Leukoencephalopathy in the Frontal and Parietal Lobes
• Existence as a Distinct Entity Is Not Confirmed
• Known Coagulation Factors Normal
• Onset Mid to Late Adulthood
• Aggregation of SNCA-Immunopositive Inclusions
• Intracellular Lewy Bodies
• Loss of Dopaminergic Neurons
• Visual Hallucinations May Occur
• Dysautonomia May Occur
• Monotonous Speech
• Primary Myopathic Changes (EMG)
• Non-Specific Myopathic Changes (Biopsy)
• Nail Changes May Be Intermittent in Some Patients
• Absent Lunulae Except on Thumbs
• Transverse Curvature in Some Nails Increased
• Scleronychia - Induration and Thickening of Nails
• Slowing of Nail Growth