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33201 to 33300 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Acute Episodes of Neuropathic Symptoms
Symptoms Worsen with Fatigue and Exercise
Mutation in the GTP Cyclohydrolase I Gene
Cerebellar Signs May Develop
Extrapyramidal Signs May Develop
Hyperkeratosis Triggered by Chronic Mechanical Irritation
Erythema due to Sudden Temperature Change or Emotional Stress
Caused by Mutation in the Beta-4 Gap Junction Protein Gene
Patchy Palmoplantar Keratosis (>50%)
Mutation in the FLCN Gene
Prominent Mandible
Neurologic Abnormalities or Dysmorphic Features Not in All Cases
Diagnosis within the First 3 Months of Life
Limb Joint Contracture
Absence of Pancreatic Autoantibodies
Thick Ears
Diabetic Peripheral Neuropathy in Long-Standing Cases
Epileptiform Activity
Diffuse Hypotonia
Renal Tubular Cell Atrophy with Corticomedullary Cysts
Interstitial Cell Infiltrate
Poor Pupillary Reflexes
Secondary Nocturnal Enuresis
Mutation in the Nephrocystin 4 Gene
Diminished Amplitude on ERG
Neurofibrillary MAPT-Positive Tangles
Mild Facial Weakness
Range of Onset 11 to 50 Years
MRI Shows Increased Connective Tissue and Fat
Skeletal Muscle Biopsy Shows Dystrophic Changes
Biceps Brachii Atrophy
Prominent Involvement of the Biceps Brachii Muscles
Prominent Involvement of the Quadriceps Femoris Muscles
Onset Birth to Early Infancy
Hyperkeratosis with Increased Melanin in Epidermis
Rickets and Premature Primary Tooth Loss Occur in Childhood
No Skeletal Abnormalities in Odontohypophosphatasia
Metatarsal Stress Fracture (Hypophosphatasia Only)
Calcium Pyrophosphate Arthropathy (Hypophosphatasia Only)
Long Bone Pseudofractures (Hypophosphatasia Only)
Rickets - Only Hypophosphatasia
Osteomalacia (Hypophosphatasia Only)
Pathologic Fractures - Only Hypophosphatasia
Alveolar Bone Decreased
Increased Error Rate in Memory-Guided Saccades (40%)
Antisaccade Error Rate Increased (50%)
Pursuit Initiation and Maintenance Impaired
Allelic Disorder to the IVIC Syndrome
No Tau Pathology
Ictal EEG Shows Focal Onset Often Posterior Region of Brain
Staring Episodes during Seizures
Rigidity during Seizures
Seizures Often Begin Focally with Head and Eye Deviation
Seizures Occur in Clusters Over 1 or Several Days
Possibly Secondary Generalized Tonic-Clonic Seizures
Capillary Hemangioma (Forehead)
High Narrow Iliac Wings
Hypoplastic Permanent Teeth
Dental Caries (Secondary Teeth)
Hyperpigmentation (Forehead)
Moderate Hypertension Secondary to Renal Disease
Mild Bleeding Episodes
Severe Thrombocytopenia (30-60 * 10^9/l)
No Cataract
Moderate Hypertension
Absent Neutrophil Inclusions
Asymptomatic Bleeding Tendencies
Mean Platelet Volume 12.6 fl
Platelets Decreased to Low-Normal (89-290*10^9/l)
Prolonged Menstrual Periods
EMG Shows Polyphasic Continuous Motor Unit Discharges
Creatine Kinase during Episodes Increased
Leg Stiffness
Psammomatous Melanotic Schwannomas
Calcified Testicular Sertoli Cell Tumor
Pigmented Micronodular Adrenal Dysplasia
Multiple Giant Cell Granulomas
Autosomal Recessive Omodysplasia Has Also Been Described
Short, Curved Humeri
Mutation in the AP3B1 Gene
Pulmonary Fibrosis due to Recurrent Infections
Tyrosinase-Positive Cutaneous Albinism
Absence of Platelet Dense Bodies
Numbers of Natural Killer Cells Decreased
Disorganized Lysosomal Compartments in Neutrophils
Dental Decay due to Recurrent Bacterial Periodontitis
Tyrosinase-Positive Ocular Albinism
Protruding Midface
Mild Motor Retardation
Hypoplastic Nails (5th Toes)
Camptodactyly (4th and 5th Fingers)
Rudimentary Ear
Creatine Kinase May Be Increased
Continuous Myotonic Activity in Myotonia Permanens (EMG)
Potassium-Sensitive Myotonia (Possibly Responsive to Acetazolamide)
See also Distal HMN2A
Allelic Disorder to Charcot Marie Tooth Disease Type 2F
Mutation in the 27 kD Heat Shock Protein 1 Gene
Paralysis and Atrophy of Distal Lower Limb Muscles
Dysarthria, Dysphonia, or Cough Precede Onset of Ataxia