38201 to 38300 most common queries

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

• Cellulitis or Infection May Occur
• Decreased CD4+CD45RA+ T Cells
• No Abnormalities of Hair Teeth or Bones
• Ectopia Lentis (64%)
• Administration of Prophylactic Medication
• Severe Disability in Adulthood
• Galactosyltransferase I Deficiency in Fibroblasts
• Relatively Small Tongue
• Clinical Variability
• Severe Vision Loss Beginning in Childhood
• Non-Epidermolytic Orthohyperkeratosis
• Pupillary Accommodation Decreased
• Hypotonia - Fixed
• Tremor with Febrile Episodes
• Loss of Independent Ambulation
• Sparing of Some Nails in Some Individuals
• Onset Earlier in Males than Females
• Mild Hypospadias
• CD8+ T Cells Decreased
• Blood Urea Nitrogen Increased
• Glaucoma (75%)
• Levodopa Induces Mild Improvement of Motor Symptoms
• Onset Ranges from Childhood to Adulthood
• Broad, Flat Forehead
• Coloboma Is Associated with Larger Microdeletion - 490 kb - of 11q13
• Hyperhidrosis of Plantar Surface
• Progression in Adulthood
• SANDO Is a Phenotypic Variant of Autosomal Recessive PEO
• Diabetes - in Affected Males
• Thick Proximal and Middle Phalanges
• Intrafamilial Variability in Degree of Nail Involvement
• Retinal Pigmentation with Dispersion Decreased
• Cleft Palate (4%)
• Large, Fleshy Ears
• Partial T Cell Lymphopenia
• Urine Sodium Increased
• Affected Males Are Somatic Mosaic for Mutations
• No Hypertrophic Cardiomyopathy
• Varying Degrees of Hypotrichosis
• Pretibial Pigmented Granulomatous Plaques
• Contiguous Gene Deletion Syndrome due to Microdeletion of 11q13
• Plantar Blistering
• Onset of Mild Symptoms in First or Second Decade
• Accessory Eyelashes
• Yellowish Dots in Ocular Fundi
• Onset in Late Teens to Twenties
• Mild Hypercortisolism
• Spoon-Shaped Toenails
• Flat Acetabuli
• Some Patients Do Not Have Bone Disease
• Dysplastic Kidneys
• Caused by Mutation in the WD Repeat-Containing Protein 45 Gene
• Caused by Mutation in the XPC Gene (XPC)
• Vital Capacity Due to Muscle Weakness Reduced
• Marked Bruisability
• Variable Absence of Teeth
• Caused by Mutation in the Post-GPI Attachment to Protein 3 Gene
• Patients Who Acquire Ability to Walk May Lose It
• Creatine Phosphokinase Mildly Elevated
• Ductal Proliferation Seen on Biopsy
• Birth Weight 1.5-2 SD below Mean
• Severe Platyspondyly
• Mutation in the CEP135 Gene
• Unsafe Sexual Practices
• Birthweight Greater than 4 kg
• Choreoathetosis
• Femoral Deformity
• Early Freckle-Like Lesions in Exposed Areas
• MRI Shows Iron Deposition in the Globus Pallidus and Substantia Nigra
• Positive for ATPase Activity at pH=4.3
• Early Tooth Loss - Third Decade
• Tooth Enamel Defect
• Prenatal Onset or Onset in Infancy
• Large, Fleshy Earlobes
• Hepatic Fibrosis Seen on Biopsy
• Birth Length 1.5-2 SD below Mean
• Myocytes with Nuclei of Globular Morphology
• Severe Mitochondrial Myopathy
• Rectal Examination Abnormal
• Ovoid Vertebral Bodies in Infancy
• Type 1 Fibers with Inclusions Containing MYH7 Protein Aggregates
• Respiratory Insufficiency at Birth
• No Renal Failure
• Intrafamilial Variability in Severity of Hypothyroidism
• Most Cases Are Isolated
• Mean Platelet Volume 20 fl
• Double Pulp Chambers
• No Mechanical Intestinal Obstructive Lesion
• Defective Ossification of the Vertebral Bodies
• Jaundice Resolves in Postpartum Period
• Adult Female Height 126-151 cm
• Conduction Abnormalities
• Focal Mild Interstitial Fibrosis
• Sensory Nerve Action Potentials Decreased
• Possibly Asymptomatic
• Gynecological Exam Abnormal
• Posterior Helical Indentations
• Mutation in the IGSF1 Gene
• Subsarcolemmal Hyaline Bodies in Type 1 Fibers Only
• Glomerular Function Normal