29001 to 29100 most common queries

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

• 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
• Bulging Forehead
• Sloping Forehead
• Mutation in the Kinesin Family Member 11 Gene
• Lymphedema Hands
• Lymphedema on Dorsa of Feet
• Deletion of 11q23
• Vaginal Agenesis
• Septate Vagina
• Uterus Didelphys
• Responsive to Thiazide Diuretics
• Mild Hypertension
• Intermittent Muscle Aches
• Non-Hemolytic Unconjugated Hyperbilirubinemia
• Vision Loss with Age
• Oral Motor Dysfunction
• Sparse and High-Arched Eyebrows
• Broad Forehead
• Pulmonary Valve - Mild Stenosis
• Moderate Aortic Regurgitation
• Mild Stenosis - Aortic Valve
• Moderate Tricuspid Regurgitation
• 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
• Diffuse Osseous Demineralization
• 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
• Acquired Microcephaly
• Migrating Focal or Multifocal Origin
• Myoglobinuria Particularly after Physical Exertion
• Coagulopathy in Those with Liver Failure
• Hyperbilirubinemia in Those with Liver Failure
• Urine Succinic Acid Increased
• 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
• 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
• Most Individuals Are Asymptomatic
• IgA Decreased
• Mutation in the SNF2 Related CBP Activatory Protein Gene
• Unilateral Renal Pyelectasis
• Bilateral Epididymal Cysts
• Posterior Urethral Valves
• Mild Intellectual Impairment
• Grooved Columella
• Bilateral Cleft Nares
• Variable Limb Malformations
• Duplication of Bones of the Feet
• Dysplastic Tarsal Bones
• Dysplastic Carpal Bones
• Duplication of Bones of the Hand
• Symmetrical Autopodial Duplication
• Aplasia of the Tibia
• Dysplastic Tibia
• Ulnar Duplication
• Symmetrical Zeugopodial Duplication
• Reduction Deficits of Halluces
• Monophalangism of First Metatarsal
• Malformed First Metatarsal
• Reduction Deficits of Thumbs
• Proximal Medial Tibial Osteochondromas
• Many Patients Become Wheelchair-Bound Later in Life
• Cerebellar Ataxia Shows Onset in Young Adulthood
• Skin Lesions Improve in the Summer
• Papulosquamous Erythematous Plaques
• Erythrokeratodermia
• Small-Fiber Neuropathy