28101 to 28200 most common queries

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

• Secondary Nocturnal Enuresis
• Mutation in the Nephrocystin 4 Gene
• Neurofibrillary MAPT-Positive Tangles
• Range of Onset 11 to 50 Years
• MRI Shows Increased Connective Tissue and Fat
• Skeletal Muscle Biopsy Shows Dystrophic Changes
• 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)
• 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
• 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
• Mild Motor Retardation
• Hypoplastic Nails (5th Toes)
• Camptodactyly (4th and 5th Fingers)
• 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
• Most Children Become Wheelchair Bound
• Mutation in the GJA12 Gene
• Loss of White Matter
• Mild to Moderate Mental Impairment
• Poor Head and Trunk Control in Infancy
• Febrile Illness May Precipitate Attacks of Weakness
• Allelic Disorder to Primary Erythermalgia
• Episodic Reddish Discoloration Associated with Pain
• Episodic Rhinorrhea
• Episodic Ocular Pain
• Episodic Epiphora
• Episodic Rectal Pain Triggered by Defecation
• Autonomic Reflex Asystolic Syncopal Events
• Episodic Burning Pain
• Onset of Periodic Paralysis - 8 Months to 15 Years
• Bidirectional Ventricular Ectopy
• QTc Prolonged
• Condylar Resorption
• Elongated Roots with Open Apices
• Stature (< 10th Percentile)
• Absent Second Finger
• Asymmetric Radial Dysplasia
• Stapedial Reflex Absent
• Hypotension May Occur Late in Disease due to Salt Wasting
• Cysts May Be Absent in Over 50% of Patients
• Renal Uric Acid Clearance Impaired
• Worsened by Immunosuppressive Therapy
• Frequent Skin Cancer
• Onset in Middle Age