39001 to 39100 most common queries

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

• Mild Form of Hemoglobin H Disease
• Mild Hypochromic Microcytic Anemia
• Hb H Erythrocyte Inclusions
• Small, Triangular Nose
• Expressive Speech Absent
• Ringed Sideroblasts on Bone Marrow Examination
• Lack of Excessive Parenchymal Iron Storage
• Free Erythrocyte Protoporphyrin Increased
• Nonprogressive Cerebellar Ataxia
• Painful Crises Precipitated by Exercise Fatigue or Stress
• Onset Usually in Childhood or Adolescence
• Mild Obstructive Lung Disease
• Globotriaosylceramide Increased
• Bone Marrow Contains Lipid-Laden Macrophages
• Alpha-Galactosidase A Deficiency
• Limited Extension of Terminal Joints
• Episodic Diarrhea
• Episodic Hypoventilation
• Episodic Choking
• Episodic Dysphagia
• Neuronal Loss and Gliosis in the Inferior Olives
• Neuronal Loss and Gliosis in the Dentate Nucleus
• Spasticity (Later Onset)
• Intermittent Episodes Associated with Lethargy, Vomiting
• Progressive Cerebellar Dysfunction
• Skewed X-Inactivation in Majority of Female Carriers
• Caused by Mutations in the PHD Finger Protein 6 Gene
• Widely Spaced and Flexed Toes
• Soft Fleshy Hands
• Hypoplastic Distal and Middle Phalanges
• Scheuermann-Like Vertebral Changes
• Postpubertal Gynecomastia
• Hypoplasia of the Prostate
• Small Atrophic Testes
• Alpha Asymmetry
• Urine 2-Ethylhydracrylate Increased
• Urine 3 Methylglutarate Elevated
• Urine 3-Methylglutaconate Elevated
• Ultrastructural Abnormalities in Mitochondria on Electron Microscopy
• Caused by Mutations in the NHS Gene
• Diastema
• Tapered Premolar and Molar Cusps
• Supernumerary Maxillary Incisors
• Screwdriver Blade-Shaped Incisors
• Normal Vision
• Posterior Y-Sutural Cataracts
• Bilateral Congenital Cataracts
• Large, Anteverted Pinnae
• Most Patients Are Males
• Hyperphalangy of Index Finger
• Ulnar Deviation of Index Finger
• Normal Intelligence (Majority)
• Heterozygous Females More Mildly Affected than Hemizygous Males
• Mutation in the Connexin 32 Gene
• Motor Nerve Conduction Velocity Reduced
• Transient Reversible Neurologic Deficits
• See Also CMTX1 and CMTX3
• See Also CMTX1 and CMTX2
• Both Demyelinating and Axonal Features
• Onset at Age 10 to 14 Years
• EMG Findings Suggest Axonal Involvement
• Spastic Paraparesis Has Been Reported
• Mild to Moderate Distal Sensory Impairment
• Paravertebral Stippling
• Coarse Sparse Hair
• Bilateral Club Feet
• Calcific Deposits in Ischium and Pubis
• Vertebral Calcifications
• Hypoplasia of Malar Eminences
• Failure to Thrive in Early Infancy
• Milder Expression in Female Heterozygotes
• Straight, Coarse Hair
• Hyperconvex Fingernails
• Small Fingernails
• Dependent Acrocyanosis
• 'Drumstick' Terminal Phalanges
• Large Soft Hands
• Joint Range of Motion Increased
• Forearm Fullness
• Hypoplastic Mastoids
• Large Medial Incisors
• Large, Open Mouth
• Weight Less than 3rd Percentile
• Short Bifid Sternum
• Butterfly Vertebrae
• Bilateral Chorioretinopathy
• Lateral and Third Ventricles Enlarged
• Possible Genetic Heterogeneity (Linkage to Xp22 in Some Families)
• Primarily Diagnosed in Females
• Mutation in the EFNB1 Gene
• Fifth Finger Clinodactyly in Females
• Hemihypotrophy of Lower Limb
• Interorbital Distance Increased
• Clavicle Pseudoarthrosis
• Pectus Excavatum in Males
• Narrow Sloping Shoulders
• Wide Sutures
• Severe Micrognathia
• Knee Extension Limited
• Long Thin Face