43501 to 43600 most common queries

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

• Neutrophil and Monocyte Migration and Chemotaxis Decreased
• Vasopressin Normal or Increased
• Poorly Calcified Teeth
• Mutation in the GLI2 Gene
• Meningoencephalocele (WWS)
• Mutation in the SPTLC1 Gene
• Paroxysmal Activity - Spikes Occipital
• Presynaptic Defect at the Neuromuscular Junction
• Unbalanced Atrioventricular Septal Defect
• Transient Migratory, Sharply Outlined Erythema
• Muscle Biopsy showing Inflammatory Changes
• Cortical Atrophy (Frontal Area)
• Cysts of Biliary Epithelial Origin
• No Ophthalmoplegia
• Blistering (Fingers, Toes, Pinnae)
• Onset between 6 and 12 Months of Age
• Normal B Cell Function
• Lower Urinary Tract Dilatation May Occur
• Complete or Partial Absence of the Corpus Callosum (WWS)
• Mutation in the SYNE1 Gene
• Pterygia of Groin
• Multiple Fluid-Filled Cysts throughout the Liver
• Reduction or Loss of Acquired Skills
• Variable Motor Involvement
• Suppression Temporal Left
• Mutation in the ABCC6 Gene
• Short, Thick Sternum
• Dwarfism, Mildly Short Limb
• Muscle Biopsy showing Centrally Located Nuclei
• Post-Exercise CMAP Amplitude Facilitation
• Birth Weight below 0.3 Percentile
• Absent Natural Killer Cell Cytotoxicity
• Excessive Chewing or Mouthing Behaviors
• Onset of Pancytopenia at Median Age 10 Years
• No Evidence of Renal Cysts
• Slow Waking Background - Intermittent Rhythmical Slowing (3-5 Hz) - Epileptiform Discharges
• Hypophosphatemic Rickets
• HLA-Bw54
• Pterygia of Axillae
• Mutation in the PROK2 Gene
• Autonomic Involvement Is Variable
• Compound Muscle Action Potential with Low Amplitude
• Type 3 EEG Response Parietooccipital Spikes Followed by Biphasic Slow-Waves Spreading to the Frontal Region
• Suppression Occipital Left
• Profound Mental Retardation (WWS)
• Birth Length below 0.3 Percentile
• Short, Wide Ribs
• Median Age at Onset of Leukoplakia: 7 Years
• Feeding Difficulties in Neonatal Period
• Progressive Peripheral Neuropathy
• Normal Development until Age 6-18 Months
• Absence of Cerebral Aneurysms
• Pterygia of Neck
• Synkinesia
• Lower Limbs More Severely Affected than Upper Limbs
• Lower Eyelid Epiblepharon
• Impaired Heel Walking
• Suppression Occipital Bilaterally
• Autosomal Recessive Cytochrome b-Positive CGD Type 2
• Rash of the Hands and Feet
• Calcification of Renal Arteries
• Glucosyltransferase Activity Decreased
• Sclerotic Ribs
• Giant Granules in Schwann Cells
• Median Age at Onset of Nail Dystrophy: 7 Years
• Cranial Foramen Impingement
• Lateral Deviation of Tibiae
• Abnormally Shaped Vertebrae
• Adducted Wrists
• Need for Sleep Decreased
• Coma Patterns
• Mutation in the SPTA1 Gene
• Impaired Toe Walking
• Skin Lesion of the Upper Extremity
• Mutation in the Solute Carrier Family 5 Member 2 Gene
• Abnormal Urinary Collagen Derived Pyridinium Crosslinks
• See Also Dyssegmental Dysplasia Type Silverman-Handmaker
• Cutaneous Symptoms Induced by Cold Exposure or Cooling
• Spots in 95% of Patients
• Mild Facial Muscle Weakness
• Diffuse Brain and Spinal Cord Atrophy (CT or MRI)
• Median Age of Onset of Pigmentation 8 Years - Range 1-15 Years
• Two Unrelated Families Have Been Reported - Last Curated May 2014
• Craniosynostosis - Lambdoid and Coronal Sutures
• Abnormal Sleep-Wake Cycles
• Extension Contractures of Knees
• Sleep EEG Shows Vertex Waves Asymmetry
• Mutation in the COL1A2 Gene
• Extracellular Volume Depletion
• Lethal in 40% of Patients
• Eczematous Nipple
• Symptoms May Decrease after Age 30 Years
• Small Odontoid
• Characteristic Arm Position with Wrist and Elbow Flexion
• Mutations in the Serine-Threonine Protein Kinase 11 Gene
• Nerve Conduction Velocities Severely Decreased
• Median Age of Diagnosis - 15 Years
• One Family Has Been Reported - Last Curated February 2015
• High, Broad Nasal Root
• Mutation in the MYH7 Gene