20401 to 20500 most common queries

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

• Responsive to Cobalamin
• Homocystinemia
• Mutation in the Hexokinase 1 Gene
• Hemihyperplasia of Feet
• Muscle Hypertrophy in Affected Area
• Fatal without Lung Transplant
• Onset Usually in 3rd Decade
• Intimal Remodeling of the Pulmonary Artery
• Pulmonary Capillary Proliferation and Dilation
• Fibrous Intimal Proliferation of Septal Veins and Preseptal Venules
• Biopsy Shows Pulmonary Venoocclusive Disease
• Lymph Node Enlargement Seen on CT
• Septal Lines Seen on CT
• Occult Alveolar Hemorrhage
• Carbon Monoxide Diffusion Capacity Decreased
• Mutation in the Muscle Glycogen Phosphorylase Gene
• Dark Urine Following Exercise
• Mutation in the Amylo-1,6-Glucosidase, 4-Alpha-Glucanotransferase Gene
• Abnormal Cardiovascular Reflexes due to Autonomic Dysfunction
• High Incidence of E Coli Sepsis in Untreated Neonates
• Abnormal Speech (if Untreated)
• Solitary Disease Is More Common in Males
• Tumors May Show Spontaneous Regression
• Mutation in the PDGFRB Gene
• Benign Soft Tissue Developmental Anomalies
• Myofibromatosis Affecting Skin, Muscle, Bone and Viscera
• Early Death
• Onset in Infancy or First Years of Life
• Hoarse Cry due to Laryngeal Involvement
• Nodules Show Lipid-Laden Macrophages
• Histiocytic Infiltration of Liver, Spleen and Lungs
• Urine Ceramide Levels Elevated
• Macular Cherry Red Spots
• Muscular Dystrophy with Variable Age of Onset
• Central Respiratory Failure
• Little Spontaneous Breath
• Osteoporosis (Classic Feature)
• Learning Difficulties (Classic Feature)
• Anemia May Improve upon IFN-Alpha Treatment
• Mutation in the Codanin 1 Gene
• Spongy Heterochromatin Clumps
• Internuclear Chromatin Bridges
• Multinuclear Erythroblasts
• Sensitivity to Hypoxemia Decreased
• Mutation in the GNPAT Gene
• Frequent Fractures
• Moderate to Severe Prelingual Sensorineural Hearing Loss
• Mutation in the TBC1D24 Gene
• Severe Aortic Stenosis
• Mild Aortic Stenosis
• Moderate Aortic Valve Dysplasia
• Fleshy Tumors of the Tongue
• Pale Optic Nerves
• Discrete Dilatation of the Right Kidney Pelvis
• Posterior Fossa Cyst Continuous with the Fourth Ventricle
• Caused by Mutation in the KIAA0196 Gene (KIAA0196 610657-0004)
• Mutation in the PET100 Gene
• Mutation in the C12ORF62 Gene
• High Electrolyte Content of Sweat
• Mental Retardation but Majority of Patients Are Normal
• Death within First Year of Life (20%)
• Twenty-Five Percent of Affected Babies Are Stillborn
• Unusual Hairline
• Mutation in the DNA Helicase RECQ-Like Type 4 Gene
• Abnormal Breathing Patterns
• Death in Infancy in Majority of Patients
• Mutation in the Homolog of S Cerevisiae FIG4 Gene
• Enlarged Cytoplasmic Vacuoles in Bone, Muscle, and Brain Tissue
• Papillo-Macular Atrophic Chorioretinopathy
• Vacuolated Neurons
• Diffuse Neuronal Loss
• Inter- and Intrafamilial Variability
• Choroidal Dystrophy
• Sensorimotor Axonal Neuropathy
• Upper Motor Neuron Signs
• Abrupt Transition from Cartilage to Bone
• Disorganization of the Cartilage Column
• Abnormal Ossification Centers
• Precocious Calcification
• Mild Hair Hypopigmentation
• Mild to Severe Skin Hypopigmentation
• Giant Granules in Muscle Cells
• Episodic Tachypnea
• Missing Digital Phalanges
• Mutation in the RNF216 Gene
• Primary or Secondary Amenorrhea
• Small, Soft Testes
• No Spontaneous Puberty
• Prominent Chorea
• Hypothalamic and-or Pituitary Defect
• Secondary Sexual Characteristics Lacking
• Mutation in the RAB3GAP2 Gene
• Hypoketotic Hypoglycemia under Fasting Conditions
• Later Onset with a Milder Phenotype May Also Occur
• Mutation in the Solute Carrier Family 25 Member 20 Gene
• Free Carnitine Low
• Skeletal Muscle Damage
• Hyphae and Pseudohyphae in Cytoplasm of Multinucleated Giant Cells
• Hyphae and Pseudohyphae Within Granulomas
• Multinucleated Giant Cells in Dermis