18301 to 18400 most common queries

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

• Absence of Upper and Lower Lateral Incisors
• Mild Unilateral Hearing Loss
• Mild Ventricular Enlargement
• Mild Segmental Callosal Hypoplasia
• Obstruction of Airways due to Sloughed Mucosa
• Midcytoplasmic Retraction of Tonofilament Skeleton
• Absence of Inner Dense Plaque
• Half Desmosomes Present
• Hypoplastic Desmosomes
• Number of Desmosomes Decreased
• Swollen Mitochondria
• Acantholysis throughout Epidermis
• Globular Distal Phalanges
• Syndactyly of 2-3, 3-4 and 4-5 Fingers
• Retroverted Ears
• Unravelling of Superior Helices
• Squared-Off Superior Helices
• Broad and Elongated Columella
• Nasal Clefting
• Skeletal Muscle May Show Less Severe mtDNA Deletion
• Additional Developmental Abnormalities May Be Seen in Some Patients
• Feet Are Unaffected in Some Patients
• Hypoplastic Nails of Some Affected Fingers and Toes
• Decreased Flexion Creases
• Distorted Triradii of Palmar Skin
• Migrating Focal Seizures
• Triggers Are Variable Even within a Family
• Mutation in the Keratin 10 Gene
• Mutation in the COL2A1 Gene
• Fiber-Type Grouping Pattern
• Myopathic Changes (Biopsy)
• Irregular Respiratory Pattern
• Anemia Requiring Transfusions
• Small, Pale Optic Discs
• Cerebellar Hypoplasia or Agenesis
• Hyperglycemia and Insulin Decreased to Non-Detectable
• Mutation in the PCYT1A Gene
• Selective Decrease in Small Myelinated Fibers (Sural Nerve Biopsy)
• Mutation in the Ribose 5-Phosphate Isomerase A Gene
• Nystagmus on Lateral Gaze
• Mixed Cerebellar - Pseudobulbar Dysarthria
• Caused by Mutation in the Thioredoxin-Like 4A Gene
• Bilateral Choanal Atresia or Choanal Stenosis
• Mutation in the Transportin 3 Gene
• Increased Mitochondria with Rare Paracrystalline Inclusions
• Abnormal Z Bands
• Filamentous Inclusions in Muscle Fibers
• Nuclei Enlarged with Central Pallor
• Myopathic and Dystrophic Changes (Biopsy)
• Mild Delayed Walking
• Slowly Progressive Disease
• Onset between 2nd and 6th Decade of Life
• Caused by Mutation in the Peripherin 2 Gene
• Normal Color Vision
• Hyperfluorescent Ring in Area of Macular Lesions (FA)
• Arden Ratios Normal or Decreased (Electrooculography)
• Cone and Rod Responses on ERG Normal or Decreased
• Stellate Retinal Folds
• Diffuse Pigment Epithelial Disturbances
• Extensive Geographic Retinal Atrophy
• Diffuse Fine Hard Drusen in Macula and Paracentral Area
• Central Pigmented Spot in Foveal Area
• Difficulties with Light Adaptation
• Central or Paracentral Scotomata
• Thorax Anomaly Ameliorates with Age
• Mechanical Ventilation May Be Required
• Aortic Valve Anomaly
• Lung Hypoplasia
• Laryngomalacia
• Lethal Respiratory Failure
• Hypoplasia of the Ilia
• Small Anterior Fossa
• Hypoplastic Mandible
• Hypoplastic Maxilla
• H-Shaped Chin Creases
• Philtrum Elongated
• Elongated Clavicles
• Wavy or 'Coat Hanger Shaped' Ribs
• Homozygous Patients: Earlier Onset, More Severe Disease
• Reduced or Extinguished Electroretinography Responses
• Multilobulated Central Atrophic Maculopathy
• Macular Pattern Dystrophy
• Pigment Deposits in Macular Region
• Bone Spicule Pigmentation in Midperiphery of Retina
• Di and Asialotransferrin Characteristics of Type 1 Pattern Increased
• Cerebral Myelination Delayed
• Non-Penetrance Has Been Observed
• Odor Identification Normal
• Decreased Odor Discrimination
• Odor Sensitivity Decreased
• Rudimentary Tympanic Membrane
• Partial Aplasia of External Auditory Canal Ending in Blind Fistula
• Mutation in the COL4A1 Gene
• Choroidal Atrophy
• Macular Hemorrhage and Fuchs Spots
• Iridocorneal Synechiae
• Iridogoniodysgenesis
• Axenfeld-Rieger Anomalies
• High Intraocular Pressure
• Diffuse Periventricular Leukoencephalopathy