Sitemap | Symptoma 24701 to 24800 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Variable Rod and Cone Responses (ERG) Mutation in RP9 Gene Likely Not Pathogenic Mutation in the RP9 Gene Acantholytic Changes Iron Sequestered in Pulmonary Macrophages Crisis Precipitated by High Altitude Exposure Pulmonary Artery Pressure Increased Normal Pulmonary Vein Pressures Left Atrial Pressure Normal High-Altitude Acute Pulmonary Edema Thin Central Cornea Cup-to-Disc Ratio Increased Cupping of Optic Nerve Head Early Onset Caused by Duplication of 300 kb on 12q14 Pseudouveitis due to Breakdown of Blood-Aqueous Barrier Iris Hypoperfusion due to Degenerated Stromal Vessels 'Moth Eaten' Pattern of Peripupillary Atrophy Melanin Dispersion in Iris Iris Rigidity Atypical Cornea Guttata Open Angle Glaucoma due to Pupillary and Ciliary Block Poor Mydriasis Regional and Ethnic Clustering Reduced Joint Mobility Mutation in the PPOX Gene Mechanically Fragile Skin Blisters on Sun-Exposed Areas Mutation in the HMBS Gene Duplicated Frenulum Subtle Midline Lip Defect Mutation in the DDX59 Gene Tetralogy of Fallot - Ventricular Septal Defect Fused Kidneys Dyspnea due to Mass Effect of Liver Caused by Mutation in the Transmembrane Mucin 1 Gene Mutation in the PKD1 Gene Cellular LMNB1 mRNA and Protein Increased Possibly White Matter Lesions in the Brain Stem Hypotrophic Brain Stem Central Hypoventilation Inspiratory Stridor in Early Life Melorheostosis Typically Affecting Diaphyses Jaw Osteomyelitis Face Deformity due to Enlarged Jaw Bones Mutation in the Anoctamin 5 Gene Onset of Optic Atrophy in Childhood Mild Extrapyramidal Signs Slow Saccades Expanded CAG Trinucleotide Repeats in the ATX1 Gene Mutation in the DNAJC5 Gene Speech Deterioration Onset of Hyperuricemia or Gout in Young Adulthood Urinary Excretion of Uromodulin Decreased Small Medullary Cysts Renal Biopsy Shows Chronic Interstitial Nephritis Non-Specific Myopathic Changes (No Dystrophy or Inflammation) Nemaline Bodies (Gomori Trichrome Staining of Muscle Biopsy) Stiffness Severity of Nail Involvement Worse on Radial than on Ulnar Side Abnormally Shaped Triangular or Absent Lunulae Myotonia - Muscle Relaxation after Contraction Delayed Muscle Hypertrophy May Occur Primarily Proximal Muscle Weakness Hand Posture Resembling Episodic Carpopedal Spasm Calf Muscle Enlargement Progressive Shoulder Girdle Muscle Weakness and Atrophy Muscle Weakness Symmetric Proximal Lower Limbs Mutation in the Solute Carrier Family 5 Member 7 Gene Difficulty with Hand Grip Flowing Hyperostosis of Bone Cortex Flexion Deformities Over Affected Bones Contractures over Affected Bones Erythematous Malar Rash Shuffling, Short-Stepped Gait Dense Islands of Connective Tissue Hyaline Changes Broad Thumbs in Valgus Position Bony Overgrowth of the Vertebral Bodies Bony Overgrowth of the Posterior Arches Posterior Neural Arches of Cervical Vertebrae Enlarged Thickening of Fascia of Forearm Thick Palmar Fascia All Cases due to De Novo Mutation Hyperkeratosis at Corners of Mouth Mutation in the Gene Encoding Desmoglein 1 Yellowish Discoloration Whitish Discoloration Onycholysis Mild Ridging Mild Nail Dystrophy Separation of Keratinocytes in Spinous Layer Normal Keratin Intermediate Filaments Widening of Intercellular Spaces Papillomatosis Hypergranulosis Diffuse Hyperkeratosis Focal Hyperkeratosis Hyperkeratotic Plaques on Anterior Knee Area Hyperkeratotic Plaques on Anterolateral Ankle Area Hyperkeratosis of Pressure Sites of Palms and Soles
