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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