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24401 to 24500 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Fusion of the Fifth Middle and Distal Phalanges
Shortness of the Fourth and Fifth Metacarpals
Lack of the Distal Interphalangeal Crease in the Fourth Fingers
Single Flexion Crease in the Fifth Fingers
Monarticular or Oligoarticular Arthritis
Anteverted Auricles
Generalized Hypotonia
Onset of Seizures in Infancy or Early Childhood
Continuous Spike Waves during Slow Wave Sleep
Centrotemporal Spike-and-Slow-Waves
Secondary Seizures
Cognitive Development Delayed
Auricular Meatal Atresia
Urinary Excretion of Neutral 17-Ketosteroids Low
Ovaries Lack Follicles
Atrophy of the Spinal Cord and Cerebellar Tracts
Caused by Mutation in the Cathepsin C Gene
Obligatory Heterozygotes Are Clinically Unaffected
Desmosomal Disks Observed in Upper Granular Layers
Variation in Amount Size and Ultrastructure of Keratohyaline Granules
Thickened Granular Layer
Orthohyperkeratosis of Horny Layer
Tonofibrils Increased
Granular Layer Focally Broadened
Transgression of Hyperkeratosis to Dorsum of Hands and Feet
Bluish-Red Border Demarcating Transition to Normal Skin
Neonatal Dyspnea
Mutation in the ATPase Class I Type 8B Member 1 Gene
Congenital Cystic Adenomatoid Malformation
IgM Immunodeficiency
Granulation Tissue
Mucous Membrane Ulceration
Prenatal Ultrasound Shows Bowel Distention
Multiple Areas of Atresia Along the Small and Large Intestines
Common Bile Duct Dilation
Bone Deformities due to Untreated Fractures
Oral Protein-Induced Hypoglycemia
Intermittent Severe Hypoglycemia
Alternating Strabismus
High Birth Weight
Transient Ataxia
About 50% of Mutation Carriers Are Asymptomatic
May Be Benign Condition
Mutation in the Alpha Aminoadipic Semialdehyde Synthase Gene
Aminoadipic Semialdehyde Synthase Deficiency
Lysine-Ketoglutarate Reductase Deficiency
Serum, Cerebrospinal Fluid, and Urine Saccharopine Increased
Plasma and Urine Ornithine Decreased
Plasma and Urine Pipecolic Acid Increased
Cerebrospinal Fluid, Serum and Urinary Lysine Increased
Renal or Metabolic Acidosis
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
Ground Glass Opacities
Occult Alveolar Hemorrhage
Carbon Monoxide Diffusion Capacity Decreased
Mutation in the Muscle Glycogen Phosphorylase Gene
Dark Urine Following Exercise
Skeletal Muscle Weakness
Mutation in the Amylo-1,6-Glucosidase, 4-Alpha-Glucanotransferase Gene
Abnormal Cardiovascular Reflexes due to Autonomic Dysfunction
Dermal Melanocytosis
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
Polychromasia in Peripheral Blood Smear
Sensitivity to Hypoxemia Decreased
Mutation in the GNPAT Gene