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Iliac Horns Arising from External Iliac Fossa Malformed Sternum Glenoid Fossa Hypoplasia Mutation in the HCRT Gene Has Been Identified in 1 Patient Caused by Mutation in the Hypocretin Gene (HCRT) HLA-DQw6 Association (DQB1*0602) Rapid Weight Gain May Occur Nocturnal Sleep Disruption Sleep Paralysis at Beginning or End of Sleep Period Male to Female Ratio 7 : 1 Vascular Stasis Hyperhidrosis - Hands and Feet Progressive Cutis Verticis Gyrata Coarse Thick Skin Redundant Palmar Skin Periosteal Thickening of Long Tubular Bones Pseudo-Ptosis Coarse, Thick and Furrowed Forehead Skin Multiple Schwannomas Mutation in the Septin 9 Gene Long Nasal Bridge Denervation in Affected Limb (EMG) Number of Episodes Varies from 1 to Many Allelic Disorder to NF1 Spinal Tumors Required for Diagnosis Mutation in the NF1 Gene Freckling May or May Not Be Present Cafe-Au-Lait Spots May or May Not Be Present Neurofibromas May or May Not Be Present Possibly Lisch Nodules For Similar Autosomal Recessive Form See CLN4 Possibly Parkinsonism Onset in Second to Fourth Decade of Life Painless Distal Ulcers due to Sensory Neuropathy Numbers of Small Myelinated and Unmyelinated Fibers Decreased Dorsal Spinal Columns Are Diminished in Size EMG Shows Chronic Axonal Neuropathy Distal Areflexia Distal Hyporeflexia Distal Limb Muscular Weakness due to Peripheral Neuropathy Distal Limb Muscular Atrophy due to Peripheral Neuropathy Sharp 'Lightning'-Like Pain Taste is Spared Allelic Disorder to Charcot Marie Tooth Disease Type 1A Precipitated by Mechanical Compression or Pressure on Nerve Mutation in the Gene Encoding Peripheral Myelin Protein 22 Tomacula On Nerve Biopsy Vocal Cord Paralysis Has Been Reported Radial Ulnar and Median Nerve Muscles May be Affected Linear Nevus Sebaceous - Often in Midfacial Area Coloboma of Eyelids, Iris and Choroid Lid Lipodermoid Asymmetric Overgrowth Dimples - Medial and Lateral Aspect of Lower Leg Relative Overgrowth of Fibula Rhomboidal Shape of Tibiae and Fibulae Lower Leg Mesomelia Normal Face See Also Autosomal Recessive Sick Sinus Syndrome Possibly Atrial Fibrillation Isolated Sinus Bradycardia Blunt Fingertips Vertebral Abnormalities High Peaks of Upper Lip Vermilion Border Deeply Grooved Philtrum Blue Green Irides Triangular Face with Age Male Infertility in Individuals with Bilateral Cryptorchidism Occasional Hypogonadism Atrophic Tonsils Guanosine Levels High Inosine Increased Erythrocyte Purine Nucleoside Phosphorylase Activity Reduced Defective Antibody Production Abnormal B-Cell Function Markedly Depressed T Lymphocyte Proportion Depletion of Lymphoid Tissues Small Lymph Nodes Which Lack Paracortical Regions Frequent Bacterial, Viral, and Opportunistic Infections Features May be Bilateral (15/24) or Left Side (9/24) All Cases Sporadic Postauricular Crescent-Shaped Hypoplastic Skin Lesion Punch-Like Skin Defects Skin Appendages Focal Dermal Aplasia or Hypoplasia Rib Dysplasia Brachymesophalangism V Small Nares Mutations in the MYCN Oncogene Syndactyly of Toes 2-3 and 4-5 Middle Phalanx of 5th Finger Hypoplastic or Absent Carrier Frequency 1:700 in Bukhara Jewish Populations No Ragged Red Fibers Abnormal Aggregation of Mitochondria Muscle Biopsy Shows Intranuclear Tubulofilamentous Inclusions Decreased Distal Reflexes Distal Limb Muscle Weakness Gait Abnormalities (Occur Later) Proximal Limb Muscle Weakness (Occurs Later) Extraocular Movements May Be Mildly Decreased