22301 to 22400 most common queries

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

• Mild to Moderate Acanthosis
• Minimal to No Parakeratosis
• Hypohidrosis or Anhidrosis
• Bathing-Suit Distribution of Ichthyosis
• Fine White Scales
• Large, Dark, Plate-Like Scales
• Self-Healing Collodion Baby
• Digital Necrosis
• Eclabion
• Taut Facial Skin
• Mutation in the ALOX12B Gene
• Mild Diffuse Alopecia
• Cornified Cell Envelope
• Marked Palmoplantar Hyperlinearity
• Larger and Darker Scales on Neck, Elbows and Knees
• Self-Healing Collodion Membrane
• Congenital Collodion Membrane
• Hypoplastic Fingers
• Eclabium
• Mutation in the ALPL Gene
• Normal Peripheral Red Blood Cell Survival Time
• Mild Anemia
• Increased Iron Deposition Seen on Liver Biopsy
• Frequency: 1-17 in 1,000,000
• Thromboembolism Is the Most Common Cause of Death
• Treatment with Betaine Especially for Pyridoxine Nonresponders
• Mutation in the CBS Gene
• Normal Pubertal Development and Fertility in Males
• Affected Females Are Infertile
• Onset of Deafness in Early Childhood
• No Ovaries
• Immature Genitalia
• Mutation in the GCLC Gene
• Proliferation of Spindle Cells
• Vertebral Fusion
• Abnormal Auricles
• Heterozygotes May Exhibit Syndromic Manifestations
• Mutation in the TWIST2 Gene
• Eyebrows Slanted Upward
• Puckered Skin about the Eyes
• Bilateral Temporal Marks
• 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
• 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
• 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
• 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
• Mutation in the TBX3 Gene
• Thin Pituitary Stalk