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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