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Caused by Mutation in the Cofilin 2 Gene Minicores or Core-Like Regions May Be Present Dystrophic Features (Later Symptom; Muscle Biopsy) Fiber Type Variation Seen on Biopsy Caused by Mutation in the F12 Gene Episodic Laryngeal Swelling Episodic Respiratory Compromise due to Swelling Episodic Facial Swelling Episodic Abdominal Pain Episodic Intestinal Edema Episodic Swelling of the Hands and Feet Respiratory Muscle Weakness May Occur Breathing Difficulties Due to Choanal Atresia Moderate Atrophy of Optic Disc Rod and Cone Responses Undetectable (ERG) Mutation in the RNASEH2A Gene Cerebrospinal Fluid Interferon Increased No Evidence of Prenatal Infection Anteriorly Rotated Ears Cerebrospinal Fluid Pterin Levels Elevated Cerebrospinal Fluid Interferon Levels Elevated Chorda Penis Mild Decrease in Mitochondrial Respiratory Chain Activity Severe Photophobia Abnormal Fibrils in Stroma (EM) Congenital Fibrosis of the Extraocular Muscles Contralateral Hemianopsia Variable Penetrance Inferonasal Iris Coloboma Mild Hearing Loss Bilateral Hypoplastic Oculomotor Nerves Oculocutaneous Hypopigmentation Marcus Gunn Jaw Winking Extraocular Muscle Fibrosis Restricted Eye Movement Cataracts Present at Birth or Develop in Infancy Prevalent in Quebec May Result in Early Death from Severe Diarrhea Very Long Chain Fatty Acids Increased Loss of Purkinje Cells in the Cerebellum Late Onset Dysphagia Vital Capacity Decreased due to Muscle Weakness Vital Capacity Restricted Highly Variable Intrafamilial Severity Mutation in the Tripeptidyl Peptidase 1 Gene Cerebellar Atrophy (MRI) Low to Moderate Myopia Limb Contractures by Age 4-5 Years No Neurologic Abnormalities Patients Exhibit No Signs of Ocular or Cutaneous Albinism Retinochoroidal Coloboma Posterior Embryotoxon Optic Nerve Misrouting on Visual Evoked Potential Analysis Absence of Foveal Pit on Optical Coherence Tomography Absence of Foveal and Macular Reflexes No Foveal Avascularity Absence of Foveal Hyperpigmentation Alternating Esotropia Mutation in the B4GALNT1 Gene Hyporeflexia (Later) Upper Limb Involvement Retained Nuclei in Stratum Corneum Absence of Stratum Granulosum Numerous 'Confetti-Like' Scattered Patches of Normal Skin Erythematous Ichthyotic Skin with Reticulate Pattern De- or Hypo-Pigmented Macules Hyperpigmented 2 to 5 mm Macules Mainly on the Extremities Wide Variation in Fiber Size Decreased Myelination Seen on MRI Lack of Situs Inversus Microcephaly (7-17 SD) Noise Exposure Causes More Severe Hearing Loss at High Frequencies Hearing Loss Is Usually Severe by Age 20 Years Onset in Second Decade but Sometimes Earlier Sparse Axillary and Facial Hair Progressive Microcephaly (3 to 5 SD) Periventricular Nodular Heterotopia Seen on MRI Antithrombin III Deficiency Chronic Anemia Hypoproteinemia Fetal Fat Pads Mutation in the TMEM216 Gene Loss of Primary Reflexes Severe Axial Muscle Weakness with Proximal Predominance Osteopenia Double Ring Sign of Lens Y-Shaped Sutural Cataract Postnatal Failure to Thrive due to Gastroesophageal Reflux Recurrent Coughing Spasms Growth Hormone Low or Absent Age of Onset between 20 to 30 Years Hearing Loss Progresses to Profound Deafness Normal Vestibular Function Fat and Fibrous Tissue Increased Congophilic Eosinophilic Inclusions Muscle Biopsy Shows Atrophy Distal Lower Limb Anterior Compartment Weakness Variable Age of Onset Vibration Sense at the Ankles Impaired Slow, Irregular Postural Tremor