Sitemap | Symptoma 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
