20601 to 20700 most common queries

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

• Asymmetric Limb Length
• Laterally Placed Scapulae
• Rounded Shoulders due to Muscle Atrophy
• Atrophy of Type 1 and Type 2 Fibers
• Many Fibers with Internal Nuclei
• Marked Variability of Fiber Size
• Increased Endomysial Fibrosis
• Muscle Biopsy Shows Grouped Atrophy
• Scapular Muscles Partially Absent
• Reduced Axillary Hair and/or Pubic Hair
• Brittle Fingernails
• Axillary Apocrine Secretion Reduced
• Complete Cutaneous Syndactyly of 2nd and 3rd Toes
• Partial Third and Fourth Finger Syndactyly
• Normal Skull X-Rays
• Widely Spaced and/or Missing Secondary Teeth
• Coloboma of the Lower Eyelids
• Folded Superior Edge of Helix
• Small Tragus, Antitragus, and Lobule
• Raised Firm Hairless Posterior Scalp Nodules
• Congenital Denuded Areas of the Posterior Scalp
• Failure of Breast Enlargement and Lactation with Pregnancy
• Hypothelia - Athelia: Rudimentary or Absent Nipples
• Pyeloureteral Duplication
• Hypoplastic Kidneys
• 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
• Normal Pulmonary Vein Pressures
• Left Atrial Pressure Normal
• High-Altitude Acute Pulmonary Edema
• Thin Central Cornea
• 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
• 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 in 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
• 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
• 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
• Myotonia - Muscle Relaxation after Contraction Delayed
• Muscle Hypertrophy May Occur
• Primarily Proximal Muscle Weakness
• Hand Posture Resembling Episodic Carpopedal Spasm
• Calf Muscle Enlargement
• 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
• 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
• All Cases due to De Novo Mutation
• Hyperkeratosis at Corners of Mouth