Sitemap | Symptoma 39001 to 39100 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. 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 Deafness Is Presenting Symptom
