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24101 to 24200 most common queries

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Mutation in the Gamma C Crystallin Opacities in Embryonic, Fetal, and Infantile Nuclei Caused by Mutation in the Alpha A Crystallin Gene Progressive Cataract Fan-Shaped Cataract Opacities in Embryonal Nuclei Multiple Types of Congenital Cataract Growth Hormone Low to Normal Narcolepsy and Deafness Are the First Symptoms Adult Onset (4th to 5th Decade of Life) Cerebrospinal Fluid Hypocretin Decreased Limb Lymphedema Caused by Mutation in the KIAA0196 Gene (KIAA0196) Atrophy of Shins Upper Limb Spasticity Fatal without Hematopoietic Stem Cell Transplantation Caused by Mutation in the Syntaxin 11 Gene Defective NK Cell Degranulation Defective NK-Cell Activity Soluble IL2 Receptor Increased Hemophagocytosis in Bone Marrow and Lymph Nodes Hyperinflammatory Disorder Increased Risk of Myelodysplastic Syndrome or Leukemia No 'Swiss Cheese' Abnormality Heterochromatin in Erythroblasts Normal Dysplastic Erythroblasts with Internuclear Chromatin Strands Megaloblastic Erythroblasts in Bone Marrow (Biopsy) Osteitis Fibrosa Cystica due to Elevated Parathyroid Hormone Limited Flexion Capillary Hemangioma on Face Broad Metopic Suture Thin Hypoplastic Vermilion Border Raised Nasal Bridge Corneal Drying Macroblepharon Renal Corticomedullary Differentiation Reduced Respiratory Difficulties due to Orofacial Malformations Mutation in the GSC Gene Absence of Pubic Bones Dysplastic Pinnae Abnormal Ossicles Shortening of the Clavicles Lack of Scrotal Sac Lack of Testes Onset between Second and Sixth Decade Mutation in the POU4F3 Gene Downward-Sloping or Flat Audiogram Postlingual Sensorineural Hearing Loss Hypotrichosis Lamellar Body-Like Deposits in Stratum Corneum Thin Stratum Granulosum Very Thin Stratum Granulosum of Hair Infundibulum Hyperkeratosis of Hair Infundibulum Thinned Hair Follicle Epithelium Orthohyperkeratosis in Stratum Corneum Follicular Atrophoderma Pitted Teeth Notched Teeth Conical Primary Teeth Sparse Eyelashes (Especially Lower Eyelid) Long Curly Dark Upper Eyelashes Commonly Death in Utero or in Early Infancy Mutation in the FAM111A Gene Long Bone Fractures Prenatally Micromelic Short Limbs Mineralization of Skull Decreased Hypoplastic Cranial Bones Obliteration of Medullary Cavity Seen on Radiography Bones Dense but Thin Thin Ribs and Clavicles Thermosensitive Neuropathy Mutation in the Keratin 85 Gene Sparse Body Hair Nuclear Coralliform Cataract Mutation in the ABCB11 Gene Mutation in the TNNT2 Gene Intermittent Respiratory Insufficiency due to Muscle Weakness Type 2 Fiber Atrophy Seen on Biopsy Decreased Size of Nerve Terminals Seen on Muscle Biopsy Thickened Endplate Basal Lamina (Muscle Biopsy) Diarrhea due to Smooth Muscle Involvement Some Features May be Variable Mutation in the Homolog of the Drosophila Dachsous 1 Gene Respiratory Difficulties due to Tracheomalacia Flexion of the PIP Joints Thickened Frontal Bones Thickened Skull Base Thick Gums Thickening of the Nasal Alae Rectoanal Atresia Intestinal Malrotation - Esophageal Atresia Some Patients Have Asymptomatic Hypocalcemia Caused by Mutation in the Calcium-Sensing Receptor Gene Bone Mineral Density of Lumbar Spine Increased Premature Osteoarthritis Hyperaldosteronemia Hyperreninemia Phosphate Normal or Mildly Elevated Mild or Severe Hypocalcemia Pulmonary Hypoplasia Associated with Diaphragmatic Hernia