37701 to 37800 most common queries

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

• Phenotype and Severity Variable
• Globular Basal Ganglia
• Lipase Increased
• Subdural Space around Frontal Lobes Increased
• Hypoplasia of Terminal Phalanges
• Spasticity Is Slowly Progressive
• Muscle Biopsy Shows Decreased Glycosylation of Alpha-Dystroglycan
• ECG: Pattern Consistent With Acute MI
• Muscle Atrophy Usually Following Neuropathy
• Axonal Motor Neuropathy
• Mutation in the Von Willebrand Factor Gene
• Lesions Follow the Lines of Blaschko
• Fine, Slow-Growing Hair
• Cafe-Noir Spots - Trunk
• Macrocephaly (26%)
• Mild Dysotosis Multiplex
• Ectopic Dorsal Pontine Transverse Bundle of Fibers Forms the 'Cap'
• Abnormal Phalanges
• Highly Variable Dysmorphic Features
• Plasma Total Cholesterol Decreased
• Muscle Weakness Usually Following Neuropathy
• Increased Sensitivity to Effects of Medication in PMs
• Dark Urine
• Mutation in the HDAC8 Gene
• Progressive Spastic Diplegia to Quadriplegia
• Patients with Type 2B Develop Thrombocytopenia
• >70% Stenosis (Coronary Angiogram)
• Phosphaturia May Disappear after a Long Period of Time
• Lentigines May be Absent
• Onychodysplasia
• Clear Corneas
• Renal Duplication (10%)
• Chronic Respiratory Distress
• Hypoplastic or Absent Middle Cerebellar Peduncles
• Mutation in the Glutaminyl tRNA Synthetase Gene
• Ultrarapid Metabolizers Have Multiple Copies of the CYP2D6 Gene
• Plasma Triglycerides Decreased
• Acute Recurrent Episodes of Brachial Plexus Neuropathy
• High Malar Bones
• Smooth Thin Dry Skin
• Centrally Placed Hair Whorl
• Bleeding Prolonged due to a Qualitative Defect in the VWF Protein
• History of Coronary Artery Bypass Grafting
• Cryptorchidism (67%)
• Neurologic Abnormalities in about 7%
• Usually Normal Stature
• Short, Tubular Long Bones
• Lymph Node Biopsy Abnormal
• Absence of the Inferior Olives
• Intractable Severe Seizures
• CYP2D6 Enzyme is Located in the Endoplasmic Reticulum of the Liver
• Mutation in the HCFC1 Gene
• Early Cystic Dysplasia
• Worldwide Frequency of 1 : 2 000 000
• Plasma Apolipoprotein B Decreased
• Cysteine and Disulfide Bonds in Hair Decreased
• Externally Rotated Feet in Valgus Position
• Inguinal Hernia (21%)
• Severe Behavioral Problems with Onset at Age 3-4 Years
• Factor VIII Decreased in Patients with Type 2N
• History of Percutaneous Transluminal Coronary Angioplasty
• One Family Reported (as of April 2012)
• Hypoplastic Wide Sacrosciatic Notches
• One Patient Has Been Reported (last Curated: April 2014)
• Flattening of the Ventral Pons (MRI)
• PMS Show Decreased Levels of Hepatic CYP2D6 Enzyme
• Mutation in the Bruton Tyrosine Kinase Gene
• Mild Structural Abnormalities
• Normal Skeletal X-Ray
• Distal Ulceration and Osteomyelitis Leading to Autoamputation
• Rate of Miscarriage in Affected Individuals Increased
• Distal Limb Contractures
• Small Penis (100%)
• Common Sleep Disturbances
• Tensile Strength of Hair Reduced
• Thick Hair
• No Congenital Heart Defect
• Disc-Like Vertebral Bodies
• Abnormal Axons with Sprouting and Swelling
• PMs Shows Deficient Oxidation of Debrisoquine
• Cranial Nerve Dysfunction
• Female Carriers May Have Mild Hearing Impairment
• End Stage Renal Disease by Third Decade of Life
• Impaired Signaling through the T Cell Receptor
• Prominent Secondary Alveolar Ridges
• Total Protein Increased
• MRI Shows Atrophy of Spinal Cord
• Congenital Secretory Sodium Diarrhea
• Slowing Mental Development by 1.5-3 Years of Age
• Mutation in the CA8 Gene
• Some Fragmented or Disrupted Golgi
• Focal Alopecia to Complete Baldness
• No Insulin Dependent Diabetes Mellitus
• Cranial Base Ossification Decreased
• Mild Ventriculomegaly
• Mutation in the POU Domain Class 3 Transcription Factor 4 Gene
• Association between Poor Metabolizers and Parkinson Disease
• CD4+ T Cell Lymphopenia
• No Sensory Defects
• No Motor Skills Acquired