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30701 to 30800 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Diminished Social Interaction
Lewy Bodies in the Substantia Nigra
Axonal Swellings or Spheroids
Rarely Onset at Age >30 Years
Most Have Onset in First or Second Decade
Bimodal Age of Onset
Mostly Pure Spastic Paraplegia - sometimes Complicated Spastic Paraplegia
Muscle Wasting Due to Chronic Denervation
Peripheral Retinal Pigmentation
Granular Fundus
Severe Epiphora
Progressive Loss of Color Vision
Allelic to Retinitis Pigmentosa 35
Neurologic Involvement Not in All Cases
Mutation in the HAX1 Gene
Increased Risk of Myelodysplastic Syndrome
Recurrent Serous Otitis
Centrally Located Liver
Caused by Mutation in the Thioredoxin Domain-Containing 3 Gene
Centrally Located Heart
Brochiectasis due to Poor Ciliary Clearance
Respiratory Cilia Have Shortened or Absent Outer Dynein Arms
Recurrent Respiratory Infections due to Ciliary Dysfunction
Recurrent Infections due to Ciliary Dysfunction
Death due to Respiratory Failure or Infection
Rare Spontaneous Improvement Occurs
Associated with Smoking
Usually Adult Onset
Acquired Autoimmune Disorder
Pulmonary Function Tests Show Restrictive Ventilatory Defect
Radiology Suggestive of Pneumonia
Inspiratory Crackles (50%)
Accumulation of Surfactant Protein
Cyanosis (25%)
Digital Clubbing due to Chronic Hypoxia
Opportunistic Infections Include Nocardia Asteroides - Mycobacterium Avium Complex
Secondary Respiratory Infections
Defective Neutrophil Function
Defective Macrophage Function
Favorable Response to Hydroxychloroquine Treatment
Some Patients May Live to Adulthood
Viral Respiratory Infection May Trigger Respiratory Distress
Occurs in Full-Term Newborns
Highly Variable Pathologic Phenotype
Intraalveolar Accumulation of Abnormal Pro-SPC Protein
Decreased or Absent Mature Surfactant C Protein
Hazy, Ground Glass Interstitial Opacifications (X-Rays)
Areas of Fibrosis May Develop with Longer Disease Duration
Nonspecific Cellular Interstitial Pneumonitis
Most Affected Infants Die in the First Month of Life
Occurs in Full Term Infants
Mutation in the ABCA3 Gene
Surfactant Deficiency
Interstitial Thickening
Type 2 Pneumocytes Contain Abnormal Lamellar Bodies
Type 2 Pneumocyte Hyperplasia
Respiratory Distress Severe Neonatal
Possibly Intracellular Accumulation of Material
Possibly Normal Development until Onset of Disorder
Rapid Cognitive Decline
Male-to-Female Ratio = 1.8:1
Asymptomatic Carriers of inv(8)(p11.2q22)
Deep Plantar Furrows
Misshapen Ears
Wide Face
Radiographic Studies Show a Single Ossification Center in the Sternum
Progressive Pectus Excavatum
Dilated Collecting Tubules
Genitourinary Anomalies
Polysaccharide Antibody Response Defect
Some Patients May Have Isolated Cardiac Involvement
High Frequency of De Novo Mutations
Allelic Disorder to Early Onset Sarcoidosis
Variable Manifestation of Features
Onset in First 2 Decades of Life
Mutation in the NOD2 Gene
Cysts Over Wrist and Ankle Joints
Skin Biopsy Shows Noncaseating Granulomas
Granulomatous Synovitis
Caused by Mutation in the Hamartin Gene (TSC1)
Mild Upper Limb Spasticity
Pontine Dysraphia
May Be Triggered by Increased Practice
May Be Progressive
Focal Dystonia - Upper Limb
Onset at Age 9-16 Years
Generalized Polyspike-and-Slow-Wave Discharges (4-5 Hz)
Noonan-Like Facies in a Minority of Patients
Some Patients Do Not Have Dysmorphic Features
Phenotypic Overlap with Neurofibromatosis Type 1
No Neurofibromas
Irregularly Placed Dentition
Delayed Eruption of Deciduous Tooth
Absence of the Olfactory Bulbs
Bright Blue Eyes
Absence of the Cochlear Nerves
Caused by Mutation in the Sry Box 10 Gene (SOX10 602229-0005)
Dilatation of the Vestibule
Vestibular Malformation
Hypoplasia or Agenesis of the Semicircular Canals