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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