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33101 to 33200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Onset Usually in First or Second Decades
Abnormal Pupillary Light Reflexes
Brainstem Auditory Evoked Potentials Prolonged
Secondary Axonal Degeneration and Regeneration
Distal Sensory Impairment of Touch, Vibration, Proprioception
Proximal Lower Limb Involvement
Possibly Distal Upper Limb Involvement (Later)
Some Patients May Become Wheelchair Bound
Mutation in the Myosin Heavy Chain 3 Gene
Precocious Arthrosis
Multimerin Decreased
Beta-Thromboglobulin Normal
Normal Thrombospondin
Von Willebrand Factor Normal
Platelet Fibrinogen Normal
Absent Platelet Aggregation Response to Epinephrine
Platelet Count Mildly Decreased to Low-Normal
Spontaneous Resolution Usually after 12 Months of Age
Average Onset 6-10 Months
Ictal EEG Showes Focal Onset in Central or Parietal or Temporal Regions
Hypertonia and Rigidity during Seizures
Undertubulation (Lack of Diaphyseal Modeling)
Crumpled Long Bones
Osteopenic Long Bones
Skull Softening
Mutation in the Leucine and Proline Enriched Proteoglycan 1 Gene
Overmodification of Type 1 Collagen
Long Phalanges
Externally Rotated and Abducted Legs
Severe Osteopenia
Patients Often Become Wheelchair-Bound
Allelic Disorder to Benign Hereditary Chorea Which Is Less Severe
'Compensated Hypothyroidism' with Increased TSH and Normal T4
Responsive to Oral Mannose Therapy
Bleeding Episodes
Females More Severely Affected than Males
Calcaneocuboidal Fusions
Broad, Thimble-Like Middle Phalanges
Bulging of Temporal Fossae
Caused by Mutation in the CCM2 Gene
Malformed Toes
Selective Tooth Agenesis
Mutation in the NPHP3 Gene
Variable Rate of Progression
Profound Deafness by 6th Decade
Hearing Loss Begins with Loss of High Frequencies
Thyroxine May Be Decreased or Normal
Difficulty Walking in Childhood
Hypoplasia of the Thyroid Gland in Some Patients
Rarely Patients May be Asymptomatic
Mutation in the Complement Factor I Gene
Susceptibility to Haemophilus Influenzae Infections Increased
Increased Susceptibility to Streptococcus Pneumoniae Infections
Susceptibility to Neisseria Meningitidis Infections Increased
Complement C3 Decreased
Complement Factor B Decreased
Depletion of Complement Components
Complement Factor I Decreased
Patients May Become Ventilator-Dependent
Contractures Hand and Finger Muscles
Scapuloperoneal Muscular Atrophy due to Denervation
Distal Muscle Atrophy due to Denervation
Sural Nerve Biopsy Shows Normal Findings
EMG Shows Neurogenic Changes and Denervation
Difficulty Walking and Climbing Stairs
Distal Muscle Weakness and Atrophy due to Motor Neuronopathy
Bilateral Prelingual Sensorineural Hearing Loss
Rod-Cone Dystrophy on ERG
Onset of Symptoms Age 5-30
Mutation in the NR2E3 Gene
Reduced Penetrance
Episodes Not Triggered by Alcohol, Caffeine or Stress
Episodic Dystonia that Primarily Affects Hands and Feet
Ossification Underlying the Skin Defect Decreased
Cores Extend Along Length of Muscle Fiber
Mildly Decreased Intelligence Has Been Reported
Type 2 - Vitreous Phenotype
Onset of Osteoarthritis in Teens to Early Adulthood
Enlarged PIP and DIP Joints
MCP Joints Enlarged
Osteoarthritis - Hips Knees Shoulders Wrists Hands
Height Compared to Unaffected Siblings Decreased
Mutation in the Phosphatase and Tensin Homolog Gene
Levodopa-Induced Dyskinesias
Diurnal Fluctuation
No Abdominal or Neurologic Symptoms in Harderoporphyria
Attacks Precipitated by Drugs, Alcohol, Endocrine Factors (HCP)
Attacks Rarely Occur before Puberty
Respiratory Paralysis (HCP)
Neonatal Hemolytic Anemia (Harderoporphyria)
Harderoporphyrin Excretion Increased
Fecal Coproporphyrin Isomer III:I Ratio Increased (HCP)
Diarrhea (HCP)
Abdominal Pain (HCP)
Splenomegaly - Harderoporphyria
Hepatomegaly - Harderoporphyria
Paranoia (HCP)
Hallucinations (HCP)
Insomnia (HCP)
Depression (HCP)