30801 to 30900 most common queries

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

• Hypoplasia or Agenesis of the Semicircular Canals
• Absence or Hypoplasia of the Anterior Limb of the Internal Capsule
• Pachygyria (Posterior to Anterior Gradient)
• Mutation in the Sonic Hedgehog Gene
• Recurrent Respiratory Infections due to Impaired Ciliary Motility
• Axonemes Show Normal Structure
• Cilia Show Nonflexible and Hyperkinetic Beating of Axonemes
• Male Fertility Remains Intact
• Monthly to Yearly Episodes, Frequency Decreases with Age
• Symptoms Precipitated by Exercise and Excitement
• Normal Interictal Neurologic Examination
• Intermittent Aminoaciduria
• Mild Methylglutaconic Aciduria
• Dark Pigmentation of Knees and Dorsum of Hands and Feet
• Hyperkeratosis, Particularly on Palms and Soles
• Loose Skin at Birth
• Frontal Polymicrogyria
• IGF-1 and IGFBP-3 Decreased
• Response to Diphenhydramine
• Positive Skin-Test Reaction to Seminal Fluid
• Labial Urticaria
• Stinging, Burning Vaginal Pain during or after Coitus
• Clinical Variability Seen in Waardenburg Syndrome Type 1
• Mutation in the PAX3 Gene
• Nasal Bone Length Decreased
• Lower Lacrimal Dystopia
• Intercanthal Distance Increased
• Laterally Displaced Inner Canthi - Dystopia Canthorum
• Philtrum Length Decreased
• Absent Vagina
• Mutation in the Microphthalmia-Associated Transcription Factor Gene
• Friendly Personality
• Poor Visual Spatial Construction
• Reddish Hair
• Bright Copper Red Hair in Darker-Skinned Individuals
• Mild Hypopigmentation
• Freckled Skin
• Bright Copper-Red Coloration of Skin (in Darker Skinned Individuals)
• Tyrosinase Normal
• Dilution of Color of Iris
• Retinal Pigment Present
• Red Reflex on Transillumination of the Iris
• Premature Heart Disease
• Distal Loss of Facial Hair
• Deficient Efflux of Intracellular Cholesterol
• Accumulation of Cholesterol Esters in Various Tissues
• Apolipoprotein A-1 Decreased or Absent
• Enlarged, Yellow-Orange Tonsils
• Facial Diplegia due to Peripheral Neuropathy
• Pain and Temperature Sensation Loss
• Syringomyelia-Like Syndrome
• Mutation in the Glutaredoxin 5 Gene
• Ringed Sideroblasts on Bone Marrow Aspirate
• Anemia - Not Responsive to Pyridoxine Supplementation
• Increased Risk of Early Death
• Risk of Thrombosis Increased
• Arterial Vessels Show Fragmentation of the Internal Elastic Membrane
• Arteries Elongated - Large and Medium-Sized Arteries Including Aorta
• Arterial Tortuosity (Large and Medium-Sized Arteries, Including Aorta)
• Bruisability Not Increased
• Bowel Necrosis due to Thrombosis
• Right Ventricular Hypertrophy (Reported in 2 Sibs)
• Structural Cardiac Defects
• Severe Bleeding after Biopsies
• Fractures at Birth
• B and T-Cell Defects (Reported in 2 Sibs)
• Recurrent Febrile Illnesses
• Portal Tract Fibrosis
• Pigmentary Deposits
• Bile Duct Abnormalities
• Chronic Vaginal Candidiasis
• Acute Hypoketotic Hypoglycemic Episodes
• Responsive to Carnitine Supplementation
• Onset in Infancy of Acute Hypoglycemic Episodes
• Mutation in the Solute Carrier Family 22 Member 5 Gene
• Fatty Infiltration of Heart Muscle
• No Ketosis
• Carnitine in Serum, Muscle, Heart, and Liver Decreased
• Urine Carnitine Increased
• Muscle Biopsy: Lipid Deposition
• Delay in Gross Motor Development due to Weakness
• Hypoglycemia-Associated Encephalopathy
• Lethargy Associated with Hypoglycemia
• Mutation in the Myosin Va Gene
• Mostly Sporadic, Rarely Somatic and Germline Mosaicism
• Bifid Femur
• Ulnar Hypoplasia
• Hypoplastic Semicircular Canals
• Chewing and Swallowing Difficulties
• Intellectual Function May Be High in Milder Cases
• Characteristic Facial Features Become More Apparent with Age
• Small Lungs
• Elastic Fibers Degenerated
• Thin or Fragmented Elastic Fibers
• Number of Elastic Fibers Reduced
• Prominent Superficial Blood Vessels due to Thin Skin
• Thin Translucent Skin
• Skin Abnormalities Tend to Decrease with Age
• Sparse Brittle Hair
• Amount of Elastin Decreased