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31601 to 31700 most common queries

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Skeletal Muscle Biopsy Shows Reducing Bodies Hyperextended Neck Pigmentary Changes Consistent with Retinitis Pigmentosa Misshapen Sperm with Decreased Motility Patients Often Wheelchair-Bound 30-40 Years after Onset Onset between Ages 10 and 25 Years Decreased Vibratory Sense after Sixth Decade Upper Limbs May Show Hyperreflexia Pure Spastic Paraplegia Systemic Iron Overload due to Ineffective Erythropoiesis May or May Not Be Responsive to Pyridoxine Treatment Female Carriers May Be Affected Macrocytic Anemia in Manifesting Females Caused by Mutation in the ATR-X Gene Long Thin Nose Caused by Mutation in the Emopamil-Binding Protein Gene Skin Lesions Follow the Lines of Blaschko Mutation in the L1CAM Gene Absent or Scanty Eyelashes Atrophic Thymus Mucosal Lymphoid Tissue Markedly Reduced Death due to Rapidly Progressive Pulmonary Fibrosis in Infancy Rapidly Progressive Interalveolar Fibrosis IgM and IgA Undetectable CD56+ Natural Killer Cells Normal CD19+ B Lymphocyte Count Normal CD3+, CD4+, and CD8+ T Lymphocytes Decreased Streak Ovaries with No Discernable Oocytes Short Sternocleidomastoid Muscle Widened Nasal Tip Widened Columella Multiple Nevi (Face and Torso) External Rotation of 4th and 5th Toes Thin Feet Poorly Defined Palmar Creases Thin Hands Microduplication of 3q29 Excessive Hand Creases Swelling Starts to Fade by Age 30 Years Progressive with Full Manifestations at Puberty Papillomatosis of Affected Area Lymphedema and Swelling of the Distal Lower Limbs Patients Remain Ambulatory Coloboma - Iris, Optic Nerve Hypoplastic Flexion Creases Second Finger Overlaps with Third Finger Contracture Vessel Calcification Short Stature with Final Adult Height of 150-160 cm Severe Metatarsus Adductus Short Forth Metacarpal Pseudoepiphyses - Middle Phalanges Camptodactyly (Progressive) Absent Distal Flexion Creases Hyperextensible Elbows Prominent Deltoid Insertion of Humerus Extension Decreased - Elbows and Knees Degenerative Hip Disease Decreased Hip Extension Transient Cranial Nerve Palsy Phenotypically Indistinguishable from Hemophilia A Caused by Mutation in the Coagulation Factor 9 Gene Overlapping Clinical Spectrum and Allelic to MASA Syndrome Increased Risk of Testicular Cancer Most Cases Result from Deletions of the STS Gene Symptoms Improve during the Summer Onset in Perinatal Period or Within the First Year of Life Caused by Mutation in the Steroid Sulfatase Gene Lesions Often of Brownish Color Sparing of Flexure Areas Palms and Soles Usually Symmetrical Skin Lesions Steroid Sulfatase Activity Decreased or Absent Vision Is Usually Not Affected Corneal Opacities on Slit Lamp Examination Protracted Delivery MRI Shows T2-Weighted Signals in the Basal Ganglia Quadriplegic Dyskinesia Status Dystonicus Arrest of Psychomotor Development after Seizure Onset Classic Severe Form Shows Onset at 2 to 3 Months of Age Long, Triangular Face Lower Limb Dystonia Focal Dystonia, Usually of the Hands Female Carriers May Have Cardiac Defects Apparently Exocytosis of Material at the Cell Surface Vertical Nystagmus Head Oscillations Allelic Disorder to Androgen Insensitivity Syndrome (AIS) Mild Symptoms May Occur in Teenage Years Onset Usually between 30 and 50 Years of Age Testosterone Decreased or Increased Secondary Myopathic Features Mild Peripheral Sensory Neuropathy Atrophy and Weakness of the Tongue, Jaw and Throat Muscles Distal Weakness Occurs Later Proximal Weakness Occurs First Atrophy and Weakness of Limb Musculature Mutation in the Mitochondrial Complex I Subunit ND4 Gene Mitochondrial Complex I Activity Decreased Onset Usually at Birth but May Occur Later