42401 to 42500 most common queries

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

• Alpha-Galactosidase A Deficiency
• Mild Memory Loss
• Camptodactyly of 5th Fingers
• One Patient Has Been Reported as of February 2012
• Susceptibility to Diabetes Mellitus
• Usually Death in Early Childhood
• Reduction of Mature B Cells
• Death Often Secondary to Infectious Disease
• Reflected Light Shows Bright and Dark Bands
• Striatal Lesions
• Lack of Inflammatory Infiltrate
• Some Patients Become Wheelchair-Bound
• Paroxysmal Activity - Sharp-Waves Occipital Bilaterally
• Severe Cognitive Deficits
• Mutation in the DDOST Gene
• Limited Extension of Terminal Joints
• Progressive Presenile Dementia (Onset at about Age 30 Years)
• Mutation in the DNA2 Gene
• Mutation in the Aggrecan Gene
• Alopecia Totalis
• Mutation in the ZMYND11 Gene
• Lack of Visual Fixation
• Infants Are Stillborn or Die before Age 1
• Round, Yellow-Brown DHA Crystals in Urine
• Hair Is Not Twisted
• Muscle Atrophy Later in Disease Course
• Paroxysmal Activity - Spikes Temporal Bilaterally
• Apparent at Birth
• Allelic to Infantile Sialic Acid Storage Disorder
• Astrocytes Show Reactive Changes
• Disordered Myelination
• Episodic Hypoventilation
• Skin Nodules - Fingers Elbows Nose Ears
• Mild Ptosis
• Sparse, Thin and Brittle Scalp Hair
• Brachydactyly in the Distal Phalanx of the First and Third Digits
• Social Difficulties
• Microcephaly Progressive (up to 11 Sd)
• 2,8-Dihydroxyadenine Urinary Stones
• Relatively Large Feet
• Asymptomatic Proteinuria or Hypercalciuria in Female Carriers
• Bands Are due to Air Spaces in Cortex of Hair
• Arrhythmic Slowing Central Right
• Painful Muscle Cramps
• Numbers of Astrocytes Decreased
• Caused by Mutation in the Histidyl-tRNA Synthetase Gene
• Elongated Second and Third Toes
• Defective, Irregular Tarsal Ossification
• Muscle Biopsy Shows mtDNA Deletions
• Neuronal Loss and Gliosis in the Inferior Olives
• Slightly Shorter Metacarpal Bones II, III, and IV
• Urine Uric Acid Decreased
• Three Families Have Been Reported - Last Curated November 2014
• APRT Deficiency as Measured in Erythrocyte Lysate
• Gyral Pattern Simplified
• Horizontal Iliac Wings
• Favorable Response to Sodium Chloride Treatment
• Phenotype of Variable Severity
• Paroxysmal Activity - Spikes Central
• Loss of Peripheral Nerve Axons
• Oligodendrocytes with Foamy Cytoplasm
• Repetitive Eye Blinking Accompanying Visual Hallucinations
• Limited Feet Motion
• Mild Limb Girdle Muscle Weakness
• Treatment: PEG-ADA, Bone Marrow Transplantation, and/or Gene Therapy
• Dragonfly Pattern on Imaging
• Spasticity (Later Onset)
• Narrowness of Intervertebral Disc Space
• Broadening of the Head of the Radius
• Pulmonary Antigen Challenge Test Abnormal
• Mutation in the Exosome Component 8 Gene
• Some Patients May Be Clinically Asymptomatic
• Mutation in the Chloride Channel 5 Gene
• Paroxysmal Activity - Spike-and-Slow-Wave Central Left
• Steep Skull Base
• Loss of Dorsal Root Ganglion Cells
• Cavitating White Matter Degeneration
• Bull's Eye Maculae
• 85-90% with Manifestations in First Months of Life
• Carpal Coalition (Fusion of Carpal Bones)
• Severe Muscle Atrophy
• Flattening of the Capitulum of the Humerus
• Hand Motion Limited
• Intermittent Episodes Associated with Lethargy, Vomiting
• Progressive Osteoarthritis
• Cerebellar Atrophy - Particularly of the Hemispheres
• Periorbital Dark Circles
• Renal Aldosterone Resistance
• Low-Molecular-Weight Proteinuria
• Paroxysmal Activity - Spikes Occipital Bilaterally
• Tetraplegia in Advanced Disease
• Symmetric Demyelination
• Thin Diaphyses of Long Bones
• Progressive Visual Impairment Starting Early Childhood
• Congenital Hip Dislocations Resistant to Surgical Treatment
• Progressive Cerebellar Dysfunction
• Loss of Myelin in the Descending Lateral Spinal Cord Tracts
• Loss of Movement in the Knees
• Late-Onset Combined Immunodeficiency with Allelic Variant
• Myopia Apparent with Age