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26701 to 26800 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Redundant Facial Soft Tissue
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