22201 to 22300 most common queries

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

• Neuropathic or Myopathic Changes Seen on EMG
• Nerve Conduction Velocity
• Mutation in the HSPD1 Gene
• Structural Renal Abnormalities
• Defective Platelet Aggregation in Response to ADP
• Peptic Ulcer Disease and Hemorrhages
• Renal Function Impaired
• Urinary Tract Dilatation
• Prevalent Among Individuals of East Asian Descent
• Mutation in the Tau Tubulin Kinase 2 Gene
• Mutation in the Zinc Finger SWIM Domain Containing Protein 6
• Severe Upper Airway Obstruction
• Vertical Clivus
• Persistent Craniopharyngeal Canal
• Carp-Shaped Mouth
• Separation of Nostrils
• Persistent Primary Vitreous
• Segmental Optic Nerve Hypoplasia
• Corneal Dermoid Cyst
• Persistent Falcine Venous Sinus
• Fenestrated Basilar Artery
• Absence of Anterior Pituitary
• Absent Olfactory Bulbs
• Interhemispheric Lipoma
• Calcification of the Falx
• Septum Pellucidum or Cavum Deficient
• Precipitated by Fever
• Onset at Mean Age of 13 Years (Range: 6-43 Years)
• Respiratory Muscle Weakness during Episodes
• Remyelinating Lesions after Episodes (Sural Nerve Biopsy)
• Nerve Conduction Block
• Slightly Reduced Nerve Conduction Velocities
• Quadriplegia during Fever
• Caused by Mutation in the Aspartate Beta Hydroxylase Gene
• Broad Nose
• Central Retrocorneal Fibrosis
• Intraocular Pressure Low
• Mild Microphthalmia
• Patchy Iris Atrophy
• Diffuse Posterior Synechiae
• Variable Degree of Angle Closure
• Iridocorneal Adhesions
• Avascular Conjunctival Cystic Elevations
• Ectopia Lentis Spherophakia
• Flat Cheeks
• All Cases Presumed De Novo Mutation
• Visual and Hearing Loss Are Slowly Progressive
• Residual Neurologic Deficits Are Slowly Progressive
• Acute Episodes Decrease with Age and Disappear
• Motor Incoordination
• Pseudocleft of the Columella
• Posterior Choanal Stenosis
• Mother Had Rubella Infection during Pregnancy with Daughter
• Slight Contractures of Distal Interphalangeal Joints
• Ulnar Deviation of Fingers
• Widespread Joint Pain
• Myopia (in Brother)
• Sensorineural Hearing Loss (in Sister)
• No Verbal Language Development (in Sister)
• Severe Stuttering
• Extreme Emotional Lability
• Usually Onset under Age 30 Years
• Permanent Loss of Sight
• Pigment-Dispersion Type Open-Angle Glaucoma
• Mutation in the Mitochondrial Lon Peptidase 1 Gene
• Glottic Narrowing
• Proximally Placed Thumbs
• Absence of Long Bones
• Hypoplastic or Absent Epiphyses
• Delayed Ossification of Epiphyses
• Thoracic and Lumbar Scoliosis
• Hypermobility of all Joints
• Chronic Sialorrhea
• Postnatal Bilateral Dense Nuclear Cataract
• Low-Frequency Conductive Hearing Loss
• Tympanic Membrane Mobility Impaired
• Extrahepatic Bile Duct Atresia
• Two Vessel Umbilical Cord
• Dilated Ureter
• Subcortical Hypomyelination
• Symmetric Ventriculomegaly
• Prominent Cortical Sulci
• Hypertrophy of the Interventricular Septum
• Caused by Mutation in the HTRA Serine Peptidase 1 Gene
• Congenital Absence of the Pericardium
• Single Umbilical Artery
• Absent Right 12th Rib
• Bilateral Cervical Ribs
• The MTTL1 c.3243A-G Transition Is the Most Common Mutation
• Caused by Mutation in the Ectodysplasin A Gene
• Trinucleotide Repeat Expansion CAGn in the Androgen Receptor Gene
• Mutation in the RNA Binding Motif Protein 10 Gene
• Squeaky Cry
• Airway Abnormalities
• Abnormal Hair Patterning
• Proximally Short Radius
• Widely Split Sagittal Sutures
• Tongue Nodules
• Simple Helix
• Tortuous Duodenum