23601 to 23700 most common queries

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

• Mutation in the Retinol Binding Protein 4 Gene
• Generalized Follicular Keratosis
• Severe Comedogenic Acne
• Photopic Responses Reduced (ERG)
• Foveal Reflex Absent
• Irregular Macular Reflex
• Prominent Optic Disc with Irregular Capillaries
• Attenuation of Retinal Arterioles
• Bone Spicule Pigmentation of Retina
• Progressive Retinal Dystrophy
• Nuclear Sclerotic Cataract
• Inferior Displacement of Pupil
• Coloboma of the Iris Inferior
• Night Vision Decreased - Childhood Onset
• Total Coloboma Involving the Macula
• Anomalous Optic Discs
• Bilateral Entropion
• Severe Respiratory Insufficiency due to Muscle Weakness
• Generalized Dystonia in Some Cases
• Usually Focal or Segmental Dystonia
• Average Age at Onset 31 Years
• Mutation in the GNAL Gene
• Clubfoot in 2/3 Sibs
• Third to Fifth Metatarsals Less Shortened
• Shortening of First Metatarsal
• Less Shortened Third to Fifth Metacarpals
• Shortening of First Metacarpal
• Shortening of First Distal Phalanx
• Shortening of Middle Phalanges of Digits 2-5
• Normally Developed Fibula
• Truncated Ulnar Styloid Process
• Short Stature (5th-10th Percentile)
• Relative Sparing of Index Finger
• Relative Sparing of Upper Extremities
• Central Tongue Atrophy
• Pseudoexophthalmos
• Fetal Movements Diminished
• Decreased Muscle Mass (Especially in Lower Extremities)
• Mutation in the UBE3B Gene
• Anomalies of Cholesterol Levels
• Mild Strabismus
• Gastrectasia
• Double Right Kidney
• Partially Empty Sella Turcica
• Size of Pituitary Gland Decreased
• Agenesis of the Rostrum of Corpus Callosum
• Onset in Mid-Adulthood
• Secondary Myopathic Changes
• Biopsy Shows Signs of Denervation
• Mild Muscle Atrophy
• Respiratory Distress at Birth
• Episodes Are Followed by Exhaustion and Sleep
• Episodes Are Triggered by Hunger, Fatigue, Cold, Stress
• Episodes Last about 1.5 Hours
• Mutation in the TRPA1 Gene
• Tachycardia during Pain Episodes
• Breathing Difficulties with Episodic Pain
• Pain Affects Upper Body
• Episodic Pain
• Mutation in the Chromosome 12 Open Reading Frame 65 Gene
• Arthrogryposis of the Small Joints
• Distal Muscle Weakness Predominantly Affecting the Lower Limbs
• Distal Muscle Atrophy Predominantly Affecting the Lower Limbs
• Average Age at Onset is 24 Years
• Mutation in the ANO3 Gene
• Laryngeal Tremor
• Dystonic Posturing of the Upper Limb
• Onset of Spasticity by Age 2 Years
• Caused by Mutation in the DDHD Domain-Containing Protein 2 Gene
• Spinal Cord Syrinx
• Abnormal Lipid Peak on Brain MRS
• Central Episodic Apnea
• Onset in the first Decade
• Mutation in the CYP2U1 Gene
• White Matter Abnormalities
• Dystonic Posturing
• Upper Limb Hyperreflexia
• Caused by Mutation in the Gene Encoding Exophilin 5
• Vesicles Clustered near Plasma Membrane
• Number of Perinuclear Vesicles Increased
• Aggregated Intermediate Filaments
• Basement Membrane-Keratinocyte Disruption within Lower Epidermis
• Irregular, Ruffled or Jagged Dermal-Epidermal Junction
• Mild Acanthosis
• Moderate Residual Postinflammatory Hyperpigmentation
• Residual Slightly Atrophic Scarring
• Intermittent Skin Blistering
• Large Brownish Scales on Lower Extremities
• Chronic Thrombotic Microangiopathy
• Waxy Appearance of Optic Disc
• Non-Reactive Deep and Superficial Elastosis
• Hyperpigmented Rim with Long, Fine Hairs Encircling the Lesions
• Polypoid Lesions of Buccal Mucosa - 1-2 cm in Diameter
• Congenital Bilateral Vesicular Lesions between Ear and Corner of Mouth
• Mutation in the ABCB4 Gene
• Cerebral Lactate Increased
• Myeloid Proliferation
• Variable Deficit of Tissue Macrophages
• Lack of Circulating Dendritic Cells
• Lack of Circulating Monocytes