39701 to 39800 most common queries

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

• Short Stature, Prenatal and Postnatal
• Onset of Arthritis in Early Childhood
• Renal Involvement and Coloboma May Not Be Present
• Subungual Lesions
• Focal Dystonia - Upper Limb
• Two Unrelated Patients Have Been Reported - Last Curated June 2013
• Mild Optic Atrophy
• Microcephaly (up to 6 SD)
• Hearing Loss Affects All Frequencies
• IgA Elevated - Equal to or Greater than 2.6 g l^-1
• Generalized Dopa-Unresponsive Dystonia
• Irregular Sclerotic Acetabula
• Foreign Material Accumulated in the Dermis
• One Patient Has Been Reported - Last Curated November 2013
• Exercise-Induced Myoglobinuria in Adults
• Pulsatile Tinnitus
• Sterile Abscesses at Site of Parenteral Injection
• Onset at Age 9-16 Years
• Limb Girdle Muscular Dystrophy Type 2L Is an Allelic Disorder
• No Cutaneous Photosensitivity
• Mild to Severe Liver Involvement
• Sloping Acetabula
• Death Often in First Months of Life
• Nodular Heterotopia of the Grey Matter
• Mutation in the GIF Gene
• Brain CT Scan showing Mass of Cerebellopontine Angle
• Segmental Rupture of the Follicular Epithelium
• Rhabdomyolysis with Exercise
• One Family Reported - Last Curated November 2013
• Rectangular Lumbar Spinal Canal
• Plasma ACTH Elevated
• Severe Cystic Acne
• Phenotypic Overlap with Currarino Syndrome
• Generalized Polyspike-and-Slow-Wave Discharges (4-5 Hz)
• Healed Areas Are Atrophic and Hypopigmented
• Caused by Mutation in the RPGRIP1-Like Gene
• Independent Ambulation Maintained
• Heterozygous Mutation Carriers May Show Mild Symptoms
• Profound Psychomotor Retardation in Those Who Survive
• MRI Scan of the Brain Abnormal
• Scarring (Late Complication)
• Muscle Stiffness
• Postinfectious Glomerulonephritis
• Noonan-Like Facies in a Minority of Patients
• Painful Bluish-Red Papules or Nodules
• Premature Death May Occur
• Onset Age 20 to 51 Years
• Normocytic Pancytopenia Following Sulfa Use
• Absence of Auto Antibodies to Intrinsic Factor or Parietal Cells
• Considered to Be a Manifestation of the Caudal Regression Syndrome
• Root Dilacerations (Extension)
• Medullary Cystic Renal Disease
• No Ichthyosis
• Mild Right Ventricular Dilation
• Two Families Have Been Reported (as of January 2011)
• Cerebrospinal Fluid Abnormality
• Fistula Formation
• Muscle Weakness Associated with Fasting or Infection
• Some Patients Do Not Have Dysmorphic Features
• Present in Jewish Yemenite Population
• Females Tend to Have Earlier Onset
• Mutation in the WWOX Gene
• Muscle Weakness and Atrophy May Be Asymmetric
• Onset in Third or Fourth Decades
• Normal Pepsin Secretion
• Coccyx Defects
• Onset at Birth or in First Days of Life
• Anti-Mullerian Hormone Levels Low
• Vacuoles Containing Neutral Lipids Seen on Muscle Biopsy
• Humoral Defect
• Cerebrospinal Fluid Protein Decreased
• Laterally Curved Eyebrows
• Draining Sinuses - Late Complication
• Phenotypic Overlap with Neurofibromatosis Type 1
• See Also Antley Bixler Syndrome with Normal Steroidogenesis
• Mutation in the Sterile Alpha Motif Domain Containing Protein 9 Gene
• Mutation in the Gap Junction Protein Gamma 2 Gene
• Lack of Visual Contact
• Thrombopoietin Increased
• Gastric Acid Secretion Normal
• Benign Hypervascularized Thyroid Nodules
• Mild to Severe T Cell Defect
• Autosomal Recessive Form
• Positive Family History in 12 33% Patients
• Proximal Limb Weakness Followed by Distal
• Dysmorphic Features Described in 1 Patient
• No Neurofibromas
• Pregnenolone Increased
• Anterior Sacral Hemidefect
• Massive Calcium Deposition in Mid and Lower Dermis
• Calf Hypertrophy (Early Symptom)
• Lymphedema of the Hands
• Audiometry Abnormal
• Disorganized Slow Background Activity
• Albuginea Perforation
• Normal Radii
• Later Onset May Occur
• Reduced Activity of Mitochondrial Respiratory Chains
• Normal Gastric Mucosa
• Caused by Mutation in the Cofilin 2 Gene