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38601 to 38700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Onset in Childhood or Early Adolescence
Brief Involuntary Movements of Upper Extremities
Myokymia Especially Facial
Deficit in Spelling
Reading Comprehension Deficits
Deficit in Basic Reading
Deficit in Phonologic Short-Term Memory
Deficit in Nonword Repetition
No other Neurologic Deficits
Onset of Neurologic Disease in Early Adulthood
Vitamin E Levels Increased
'Hatchet' Face
Lack of Facial Fat
Spastic-Ataxic Gait
Onset of Hypoglycemia Possibly Delayed
Asymptomatic Hyperammonemia (2- to 5-fold Increase)
Onset Age 14-28 Years
Spared Cranial Muscles
Involves Upper and Lower Proximal Muscles
Anterior Tibial Muscles First Involved
Creatine Kinase 20-70 Times Normal
Cone-Shaped Epiphyses - Toes 2, 3 and 4
Favorable Response to a Ketogenic Diet
Erythrocyte Glucose and Hexose Transport Reduced
Cerbrospinal Fluid Lactate Low to Normal
Hypoglycorrhachia (low Glucose in CSF)
Abnormal Paroxysmal Eye Movements
Paroxysmal Myoclonus
Paroxysmal Total Body Paralysis
Paroxysmal Hemiparesis
Paroxysmal Lethargy
Paroxysmal Confusion
Infantile Seizures
Phenobarbital Decreases Bilirubin Concentration
Uncommon Disorder
UDP Glucuronyl Transferase Activity Decreased or Absent
Normal Serum Liver Enzymes
Mean Age of Onset 56 Years
Frequent Blinking
Focal Dystonia Limited to Orbicularis Oculi Muscle
Cutaneous Leiomyomata (Heterozygote Carriers)
Fumarase Activity Is Decreased
Pyruvic Acidemia
Abnormal Oral Glucose Tolerance
Mild Intermittent Glucosuria
Severe Chronic Diarrhea
Changes More Marked in Hands than Feet
Brachytelomesophalangy
Symptoms Occur only during Sleep
Nocturnal Tongue Biting and Bleeding
Nocturnal Faciomandibular Myoclonus
Onset in 5th Decade
Mild Distal Sensory Deficits
Hyporeflexia or Areflexia
Caused by Mutations in the CD40 Gene
Lymph Nodes Lack Germinal Centers
IgA, IgE, and IgG Severely Decreased
IgM Normal or Increased
Possible X-Linked Recessive Inheritance
Widely Spaced Sutures
Wide Webbed Neck
Hypersegmented Sternum
Polymicrogyria Most Severe in the Frontoparietal Regions
Finger Dysmetria
Premature Chromosome Condensation
Small Upper Lip
Aplastic or Hypoplastic Distal Phalanges of Toes 2-5
Aplastic or Hypoplastic Middle Phalanges
Absent Pisiform Bone
Trapezium Bone Absent
Aplastic or Hypoplastic Distal Phalanges
Aplastic or Hypoplastic Middle Phalanges - Fingers 2-5
Narrowed Zygomatic Arch
Photosensitivity in One Third of Patients
Urinary Incontinence (Continence Never Achieved)
Hemispheric Atrophy
Profound Congenital Hearing Loss
Broad Adducted Forefoot
No Symphalangism
Premature Epiphyseal Fusion
Short Proximal First Phalanx
Short Distal Phalanges (Fingers 2 - 5)
Brachymesophalangy
Compensatory Chin Elevation
Relatively Benign Course
Onset 50 to 65 Years
Parkinsonism with Favorable Response to Dopaminergic Medication
Lewy Bodies
Pigmentary Loss in the Substantia Nigra
Gliosis in the Substantia Nigra
Neuronal Loss in the Substantia Nigra
Mutation in the Matrilin 3 Gene
Small Irregular Epiphyses (First Metacarpal)
Submetaphyseal Vertical Striations
High Greater Trochanter
Broad Short Femoral Neck
Early-Onset Osteoarthritis
Normal Stature
Onset: Infancy to Young Adulthood
Respiratory Vital Capacity Decreased