Sitemap | Symptoma 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
