39701 to 39800 most common queries

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

• Dermal Contractures
• Scarring (Late Complication)
• Fistula Formation
• Draining Sinuses - Late Complication
• Preponderance of Affected Females to Males
• Mutations in the T Box 5 Gene
• Asymmetric Involvement
• Radial-Ulnar Anomalies
• Upper Extremity Phocomelia
• Absent Pectoralis Major Muscle
• Complete Penetrance
• Normal Range of Expanded Repeats 9 29 Hd Range 36 121
• Juvenile Rigid Early-Onset Form More Often Paternally Inherited
• Prevalence Much Higher in Whites than Blacks
• Neuronal Loss and Gliosis in Caudate and Putamen
• Progressive Clinical Course with Onset in Childhood
• Impairment of Dark Adaptation with Age
• 'Empty' Vitreous with Fibrillary Condensations
• Peripheral Traction Retinal Detachment
• Mild Myopia
• Visual Field Defects (Middle Age)
• Rarely Produces Clinical Jaundice
• Common (up to 7% of the Population)
• Hepatic UDP-Glucuronyl Transferase Activity Decreased
• Mutations in the LDLR Gene
• Planar Xanthomas
• Onset of Disease in Late Childhood
• Broad Cortex of Long Bones
• Mild Sclerosis
• Mild Vertebral Body Sclerosis
• Decreased Gonial Angle - Endosteal Hyperostosis
• Gonial Angle Increased
• Loss of Diploe
• Endosteal Sclerosis of Cranium
• Mandibular Bone Density Increased
• Calvarial Density Increased
• Mandible Elongated
• Resistance of Bone to Fractures
• Flattened Forehead (Adolescence)
• Mild Clavicular Sclerosis
• Mild Rib Sclerosis
• Weak Hoarse Cry
• Abnormality of the Ureter
• Posterior Labia Majora Splayed
• Diastolic Blood Pressure Increased
• Systolic Blood Pressure Elevated
• Body Temperatures Elevated to 42°C
• Precipitated by General Anesthesia
• Mutations in the RYR1 Gene
• Mutation in the Early Growth Response Protein 2 Gene
• Mutation in the PRX Gene
• Mutation in the MPZ Gene
• Neonatal Severe Hyperparathyroidism in Homozygotes
• Mutations in the Calcium Sensing Receptor Gene
• Mild Frontal Bossing
• Urine Phosphoethanolamine Increased
• Deletion of Chromosome 18p11.2
• Upturned Nostrils
• Multiple Buccal Frenula
• Simple Auricles
• Pituitary Aplasia or Dysplasia
• Aplasia or Dysplasia of Thyroid
• Congenital Nasal Pyriform Aperture Stenosis
• Midnasal Atresia or Stenosis
• Single Median Maxillary Central Incisor
• Torus Palatinus
• Mild Thrombocytopenia (before Age 50)
• Limited Movement of the Wrist
• Pectoralis Major Hypoplasia
• 75% of Affected Individuals Are Female
• Partial Deletion of Long Arm of Chromosome 11
• Anteverted Nostril
• Mutations in the TBX4 Gene
• Short Fourth and Fifth Rays
• Femoral Necks Elongated
• Infra-Acetabula Axe-Cut Notches
• Flat, Wide Proximal Femoral Epiphyses
• Hypoplasia of the Lesser Trochanter
• Left Side Involvement Associated with Serious Cardiac Defect
• Right Side Affected Greater than Left Side
• Mutations in the Emopamil Binding Protein Gene
• Single Coronary Ostium
• Ipsilateral Lung Hypoplasia
• Unilateral Alopecia
• Sharp Midline Demarcation
• 8-9-Cholestenol Elevated
• 8-Dehydrocholesterol Increased
• Ipsilateral Epiphyseal Stippling
• Knee Webbing
• Unilateral Hypomelia (Digital Hypoplasia to Complete Limb Absence)
• Unilateral Pelvic Hypoplasia
• Ipsilateral Mandibular Hypoplasia
• Mild Intrauterine Growth Retardation
• Unilateral Clavicular, Scapular, Rib Hypoplasia
• Ipsilateral Renal Agenesis
• Ipsilateral Fallopian Tube Hypoplasia
• Ipsilateral Ovarian Hypoplasia
• Ipsilateral Cranial Nerve Hypoplasia
• Ipsilateral Brain Hypoplasia
• Ipsilateral Adrenal Gland Hypoplasia