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Episodic Erythrocyte Sedimentation Rate Increase Episodic Arthralgia IL6 Increased - Episodic Episodic Polymorphonuclear Leukocytosis Myalgia Episodic Episodic Conjunctivitis Progressive Late Onset Sensorineural Deafness Caused by Mutation in the Bestrophin 1 Gene (BEST1 607854-0020) Reduced Electroretinogram Becoming Extinguished in Older Patients Chronic Angle-Closure Glaucoma in Older Patients Nanophthalmos if No Staphyloma Posterior Staphyloma in Most Eyes Peripheral Retinal Pigment Epithelium Atrophy Fundus Dystrophy Vitreous Fibrillar Condensation Punctate White Opacities in the Retina Onset of Night Blindness during Adolescence Sensorineural Hearing Loss Associated with ELSTs Endolymphatic Sac Tumor Allelic to Neurofibromatosis Type 1 Allelic to Ellis-Van-Creveld Syndrome Autosomal Recessive Form Has Also Been Described See Also DA2B Which Is an Allelic Disorder Interstitial Connective Tissue Increased Small Type 1 Fibers Skeletal Muscle Biopsy Shows Fiber Size Variability Mild Muscle Weakness Acute Metabolic Decompensation Highly Variable Phenotype - Ranging from Asymptomatic to Severe Onset: Birth to Early Childhood Butyryl Carnitine Increased Short-Chain Acyl-CoA Dehydrogenase Activity Decreased Chronic Failure to Thrive Pigment Does not Develop with Age Complete Absence of Melanin Synthesis No Ability to Tan Milky White Skin Asymmetric Visual Evoked Potentials Positive Angle Kappa Absent Stereopsis due to Anomalous Decussation at the Optic Chiasm Misrouting of the Optic Nerves at the Chiasm High Refractive Errors Visible Choroidal Vessels Retinal Pigment Absent Blue Gray Irides (Adult) Pink Irides Absent Iris Pigment Mutation in the ALMS1 Gene Discolored Enamel Deformities of the Calyceal System Narrowing of the Ureteropelvic Junctions Anterior Open Bite Vertical Dysgnathia Retrognathic Mandibular Position Mutation in the Tumor Associated Calcium Signal Transducer 2 Gene Raised Yellowish Gray Gelatinous Masses Foreign Body Sensation (Early Symptom) Photophobia (Early Symptom) Blurred Vision (Early Symptom) Lacrimation - Early Symptom Open Spina Bifida (Myelomeningocele) Subnormal Intelligence Ventricular Anomalies Polygyria Cisterna Magna Absent Small Thin Cerebellum Death Usually in the Perinatal Period Lung Hypoplasia Secondary to Oligohydramnios Dilated Bile Ducts Hyperplastic Biliary Ducts Dysplastic Bile Ducts Ureteral Atresia Deficient Nephron Differentiation Number of Nephrons Decreased Muscle Coenzyme Q Deficiency Mutation in the MKKS Gene Caused by Mutation in the BBS7 Gene (BBS7) Mutation in the BBS5 Gene Mutation in the BBS4 Gene Caused by Mutation in the BBS2 Gene (BBS2) Caused by Mutation in the BBS1 Gene (BBS1) Mutation in the Regulatory Factor X, Ankyrin Repeat Containing Gene Mutation in the RFX5 Gene Mutation in the MHC2TA Gene Mild to Severe Developmental Delay Caused by Mutation in the Klotho Gene Mutation in the PMM2 Gene Abnormal Glycoproteins Most Patients Are Wheelchair Bound Stereotypic Behaviors (Hand-Washing Movements, Head Banging) Mutation in the PEX26 Gene Mutation in the PEX6 Gene Mutation in the Peroxisome Biogenesis Factor 5 Gene Reduced Numbers of Peroxisomes Necrotic Hepatocytes on Biopsy Nonspecific Inflammation on Biopsy Giant Cell Hepatitis on Biopsy Vacuolated Macrophages Aplastic or Hypoplasia of First Metatarsal Aplastic or Hypoplastic First Metacarpal