Sitemap | Symptoma

22101 to 22200 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

Mixed Cerebellar - Pseudobulbar Dysarthria Caused by Mutation in the Thioredoxin-Like 4A Gene Bilateral Choanal Atresia or Choanal Stenosis Mutation in the Transportin 3 Gene Rigid Spine Increased Mitochondria with Rare Paracrystalline Inclusions Abnormal Z Bands Filamentous Inclusions in Muscle Fibers Nuclei Enlarged with Central Pallor Myopathic and Dystrophic Changes (Biopsy) Difficulty Running and Jumping Mild Delayed Walking Slowly Progressive Disease Onset between 2nd and 6th Decade of Life Caused by Mutation in the Peripherin 2 Gene Normal Color Vision Hyperfluorescent Ring in Area of Macular Lesions (FA) Arden Ratios Normal or Decreased (Electrooculography) Cone and Rod Responses on ERG Normal or Decreased Stellate Retinal Folds Diffuse Pigment Epithelial Disturbances Extensive Geographic Retinal Atrophy Diffuse Fine Hard Drusen in Macula and Paracentral Area Central Pigmented Spot in Foveal Area Difficulties with Light Adaptation Central or Paracentral Scotomata Thorax Anomaly Ameliorates with Age Mechanical Ventilation May Be Required Aortic Valve Anomaly Lung Hypoplasia Laryngomalacia Lethal Respiratory Failure Hypoplasia of the Ilia Small Anterior Fossa Hypoplastic Mandible Hypoplastic Maxilla Short Neck or Webbed Neck Puckered Lips H-Shaped Chin Creases Philtrum Elongated Prominent or Protruding Philtrum Placental Abnormality Elongated Clavicles Wavy or 'Coat Hanger Shaped' Ribs Thin Ribs Small Bell Shaped Thorax Homozygous Patients: Earlier Onset, More Severe Disease Reduced or Extinguished Electroretinography Responses Multilobulated Central Atrophic Maculopathy Macular Pattern Dystrophy Pigment Deposits in Macular Region Bone Spicule Pigmentation in Midperiphery of Retina Di and Asialotransferrin Characteristics of Type 1 Pattern Increased Cerebral Myelination Delayed Non-Penetrance Has Been Observed Odor Identification Normal Decreased Odor Discrimination Odor Sensitivity Decreased Rudimentary Tympanic Membrane Partial Aplasia of External Auditory Canal Ending in Blind Fistula Mutation in the COL4A1 Gene Macular Hemorrhage and Fuchs Spots Iridocorneal Synechiae Iridogoniodysgenesis Polycoria Corectopia Iris Hypoplasia Axenfeld-Rieger Anomalies High Intraocular Pressure Diffuse Periventricular Leukoencephalopathy Porencephaly Central Facial Palsy Variable Age at Onset (Birth to Adolescence) Basal Ganglia Lesions Seen on MRI Mutation in the RMRP Gene Synostosis of Distal Interphalangeal Joint of 5th Finger Swelling over Proximal Part of Middle Phalanx of 2nd-4th Fingers Maxillary Length Decreased Short Anterior Cranial Base Persistent Growth Deficiency Proportionate Short Stature at Birth Ectopic Kidneys Bilateral Calcification of Basal Ganglia and Cerebellum Onset between 5 to 28 Years of Age Mutation in the TMC1 Gene Perioral Dyskinesia Periorbital Dyskinesia Abnormal Facial Movements Impaired Walking Ability Possibly Myopathic Features Disruption Plasma Membrane Connective Tissue Increased Muscle Fiber Splitting Internal Nuclei Seen on Biopsy Myopathic Pattern (EMG) Proximal Muscle Atrophy Caused by Mutation in the Lysine-Acetyltransferase 6B Gene Slowly or Rapidly Progressive Extraocular Muscle Weakness Neuropathic or Myopathic Changes Seen on EMG