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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