Sitemap | Symptoma 24801 to 24900 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Painless Fractures Hyperkeratosis on Dorsal Surface of Fingers and Toes Exudative Vitreoretinopathy Facial Muscle Atrophy on Involved Side Hypoplastic Glomerulocystic Kidney Disease Abnormal Renal Pelvises PRNP-Immunoreactive Cerebral Amyloid Angiopathy Male-Limited Trait Progressive Degenerative Osteoarthropathy Hypoplasia of Bony Condyles of Knees Malaligned Elbows and Wrists Intrathoracic Duodenal Bulb Frequent Upper and Lower Respiratory Tract Infections Painful Swelling in Aponeuroses Mutation in the Excision Repair Cross Complementing Group 6 Gene Genu Valgum Deformity Relative Muscle Weakness, Especially in Pelvic Girdle Imprinting at 11p15.5 Mutation in the CDKN1C Gene Blake's Pouch Wide Thin Scars Bradykinetic Tongue Hollowed Cheeks Laryngeal Adductor Spasmodic Dysphonia Abnormal 'Hobby Horse' Ataxic Gait Oral Mucous Membrane Dyskeratosis Resembling Leukoplakia Irritation of Eye with Itching Dilated Superficial Vessels Give 'Red Eye' Appearance Extensive Lesions May Impair Vision Lesions May Involve Cornea Possibly Only Ocular Involvement or Only Oral Involvement Possibly Seasonal Variation in Symptoms Defective Dentition Mutation in the Family with Sequence Similarity 111 Member A Gene Transient Hyperphosphatemia Hypocalcemia Transient Dense Tubular Bones and Narrow Marrow Cavities Microorchidism Episodic Hypocalcemic Tetany Small to Absent Parathyroid Glands Mitochondrial DNA Deletions Mild Myopathy Axonal Sensorineural Polyneuropathy Ataxia May Develop in Middle Age Cutaneous and Mucosal Skin Tags Cutis Gyrata Apnea during Seizures Impairment of Extraocular Movement Sensorineural Hearing Loss - Mid-Frequency Ocular Abnormalities May Be Very Mild Pyramidal Skinfold of Halluces Variable Skin - Syndactyly Fingers and Toes Mutation in the IRF6 Gene Mutation in the JAG1 Gene Mutation in the WFS1 Gene Severe Limb Contractures Ability to Open Mouth Reduced Mutation in the PIEZO2 Gene Hypermobile First Metacarpophalangeal Joint Bilaterally Absent Anterior Cruciate Ligament Weak or Absent Tendon Reflexes - Knees and Ankles 25% due to Mutations in UBE3A Mutation in the Ubiquitin Protein Ligase E3A Gene Erythrocyte Adenosine Deaminase Increased Muscle Weakness and Atrophy Congenital Alopecia Universalis Subcutaneous Ossifications Doughy Skin Type 3: Craniosynostosis, Early Death, Sporadic Type 2: Cloverleaf Skull, Elbow Ankylosis, Early Demise, Sporadic Small Spleen Subcutaneous Edema Normal Birth Corneal Reflexes Decreased or Absent Hyposmia - Anosmia Never Learn to Walk Unusual High Pitched Voice First Identified in Individuals of Cypriot Origin Straight Nose Inverted Spleen Mild Dysmetria Unsteady Gait due to Muscle Weakness Mutation in the Brain Protein 44-Like Protein Gene Dysplastic Fourth Metatarsals Loss of Peripheral Vision in Third and Fourth Decades of Life Central Steepening of Cornea Loose Anagen Hair Usually Fatal Within the First Few Weeks of Life Thin Nails Baseline Gonadotropins Increased Deficiency of Mitochondrial Respiratory Enzymes Seen on Muscle Biopsy Small Upturned Nose Occurs Much More Commonly in Women Epithelial Cells May Be Sloughed Into Cysts COX-Deficient Fibers Mild Sphincter Disturbances Intermyofibrillar and Subsarcolemmal Glycogen Increased Reduced Bending Capacity of Cilia Variable Muscle Weakness Mild to Moderate Hyperkeratosis
