31601 to 31700 most common queries

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

• 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