24301 to 24400 most common queries

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

• Writing Fatigability
• Difficulties in Fine Bimanual Activities
• Involuntary Mirror Movements (Upper Limb, Hand)
• Thick, Everted Lower Lip
• Open Mouth
• Large Prominent Nose
• Small Bulbous Nose
• Abnormal Ears
• Large Simple Ears
• Small Ears with Large Lobules
• Outer Ear Abnormalities
• Postnatal Growth Retardation
• Short Stature - Deletion Patients
• Sleep Abnormalities
• Segmental Distribution Often Affecting One Limb
• Sclerotic Soft Tissue Over Affected Bones
• Skin Atrophy Over Affected Bones
• Caused by Mutation in the GATA-Binding Protein-4 Gene
• Cardiac Valve Insufficiency
• Atrioventricular Septal Defect
• Pulmonary Valve Thickening or Stenosis
• Caused by Mutation in the Desmoglein 4 Gene (DSG4)
• Beard, Axillary and Pubic Hair Usually Normal
• Eyebrows and Eyelashes May Be Sparse
• Short Sparse Hair on Scalp
• Fragile Hair that Breaks Easily
• Elliptical Nodes
• Marked Swelling of Precortical Region
• Hair Shafts Often Coiled Within Skin
• Abnormal Hair Follicles with Thin Atrophic Shafts
• Pruritus in Affected Areas
• Erythema in Affected Areas
• Marked Variability in the Deletion Size
• Straight Eyebrows
• Obesity - after Infancy
• Decreased Caveolin 3 Expression Seen on Muscle Biopsy
• Dystrophic Changes Seen on Skeletal Muscle Biopsy
• Mutation in the SCN2A Gene
• Vertical Gaze Limitation
• Decreased Vibratory and Positional Sense
• Mild Cognitive Regression
• Mild Developmental Delay
• Motor Regression
• Prominent Full Lip
• Lacunar Retinal Depigmentation
• Hypermetropic Astigmatism
• Mutation in the Kinesin Family Member 11 Gene
• Lymphedema Hands
• Lymphedema on Dorsa of Feet
• Normal Intelligence to Mild or Moderate Mental Retardation
• Deletion of 11q23
• Vaginal Agenesis
• Septate Vagina
• Uterus Didelphys
• Responsive to Thiazide Diuretics
• Mild Hypertension
• Intermittent Muscle Aches
• Vision Loss with Age
• Oral Motor Dysfunction
• Sparse and High-Arched Eyebrows
• Pulmonary Valve - Mild Stenosis
• Mild Stenosis - Aortic Valve
• Tricuspid Valve - Thickening to Severe Stenosis
• Mild to Moderate Mitral Regurgitation
• Mitral Valve - Thickening to Severe Stenosis
• Hypertrophy of All 4 Chambers of Heart
• Prenatal and Postnatal Short Stature
• Variable Metacarpal Shortening
• Hypotubulation of Long Bones of Legs
• Anterolateral Tibial Bowing
• Ulna Proximal Bowing
• Distal Humerus Bifurcation
• Prominent Iliac Bones
• Widened Iliac Bones
• Superior and Inferior Vertebral Body Notching
• Interpedicular Distance Narrowed in Lumbar Area
• Caused by Mutation in the Inducible Costimulator Gene
• Distal, Free Edge of Toenail is Deformed and Narrow
• Nail Plate Buried in Nail Bed
• Toenail Dystrophy Most Severe in Nails of Great Toes
• Migrating Focal or Multifocal Origin
• Myoglobinuria Particularly after Physical Exertion
• Coagulopathy in Those with Liver Failure
• Hyperbilirubinemia in Those with Liver Failure
• Urine Malic Acid Increased
• Urine Fumaric Acid Increased
• Urine Citric Acid Cycle Intermediates Increased
• Mutation in the CACNA1A Gene
• Brain Edema Following Head Injury
• Does Not Result in Renal Failure
• Mutation in the Collagen Type 4 Alpha 3 Gene
• Mutation in the COL4A3 Gene
• Cleft Lip or Palate
• Early Onset Mixed Conductive and Sensorineural Deafness
• All Reported Cases Have Occurred Sporadically
• Progressive Cerebellar Atrophy
• Onset of Bleeding in Infancy or Early Childhood
• Mutation in the Neurobeachin-Like Protein 2 Gene
• Low to Normal Platelet Count
• Mutation in the MYOC Gene