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34001 to 34100 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Female Preponderance
High Inter- and Intrafamiliar Variability of Phenotype
Dysplastic Pulmonary Valve
Cardiac Abnormalities
Interstitial or Terminal Deletion of 18q
Planovalgus
Tapering Digits
Atopic Disorders (Eczema, Food Allergy, Asthma)
Protuberant Lower Lip
Short Frenulum
Downturned Corners of the Mouth
Large, Dysmorphic Ears
Malformed Earlobes
Narrow Biparietal Diameter
Prominent Abdominal Venous Pattern
Dysphonia due to Muscle Weakness
Rimmed Vacuoles with Basophilic Granular Material
Angulated Atrophic Fibers
EMG Shows Myotonic Changes
Finger and Wrist Extensor Weakness
Foot Extensor Weakness
Dysphagia due to Muscle Weakness
Parieto-Occipital Alopecia
Overlapping Sutures
Large Anterior Fontanels
Fusion of Dentate Nuclei and Superior Cerebellar Peduncles
Agenesis or Hypogenesis of the Cerebellar Vermis
Head-Rolling Movements
Trigeminal Anesthesia
Levels of Vitamin B12 Elevated
Interleukin 10 Increased
Allelic to Oto-Spondylo-Megaepiphyseal Dysplasia
Allelic Disorder to Stickler Syndrome Type 3
Congenital Non-Progressive Non-Syndromic Sensorineural Hearing Loss
Short Deep Set Toenails
Horizontal Chin Cleft
Nail Dystrophy with Overcurvature
Numerous Large Keratohyaline Granules in Superficial Keratinocytes
Mild Superficial Perivascular Lymphohistiocytic Infiltrates
Mean Age at Onset: 12.5 Years
Mutation in the TCAP Gene
Cardiac Muscle Is Involved in a Subset of Patients
Creatine Kinase Levels May Normalize with Disease Progression
Absence of Telethonin Protein
Centralized Myonuclei
Necrotic and Regenerating Muscle Fibers
Progression to Wheelchair in Fourth Decade
Calf Hypertrophy
Difficulty Walking Running
Proximal and Distal Muscle Atrophy in Lower Limbs
Severe Distal Muscle Weakness in Lower Limbs
Straw-Like Fragile Hair
Trichodystrophy
Single Thumb Crease
Thick Coarse Lips
Hypoplastic Halluces
Round Nasal Tip
Low Nasal Root
Onset of Choreoathetosis in Childhood or Young Adult
Average Onset of Seizures 6 Months
Exertion or Anxiety May Trigger Involuntary Movements
Severe Limitations of Eye Movements
Unilateral Hypertropia
Unilateral Hypotropia
Eyes Fixed in Extreme Abduction (Exotropia, Strabismus Fixus)
Bilateral Ptosis
Onset Usually at Age >40
Most Commonly Affected Site
Deformity or Enlargement of Bones
Mixed Regions of Osteosclerosis and Osteolysis
Deafness in 30-50% of Patients with Skull Involvement
Hyperkalemic Metabolic Acidosis
Neonatal Death Secondary to Pulmonary Insufficiency
Multiple Renal Cortical Microcysts
Tabular Atrophy
Absence of Corticomedullary Differentiation
Ultrasound Shows Enlarged Hyperechogenic Kidneys
Renal Failure by Age 3
Complete Vestibular Areflexia
Improvement of Epimetaphyseal Changes with Age
Mutation in the MMP13 Gene
Metaphyseal Cupping
Small Flattened Epiphyses
Flaring of Iliac Wings
Schmorl Nodule Appearance
Mild Platyspondyly (Adults)
Irregular Sclerotic Endplates (Adults)
Normal Odontoid Process
Pear-Shaped Vertebrae
Adult Female Height 152 - 167 cm
Adult Male Height 167-173cm
Flared, Irregular Rib Ends
Symptoms Remain Focal
Age of Onset: 28-70 Years
Dystonic Writer's Cramp
Postural Hand Tremor
Prominent Veins
Partial Cutaneous Syndactyly
Desmosterol Increased
Gingival Nodules