34701 to 34800 most common queries

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

• Characteristic Facial Features Become More Apparent with Age
• Combined Mitochondrial Respiratory Chain Deficiency
• Caused by Mutation in the Myosin Va Gene
• Granular Layer Hyperplasia
• Based on 1 5-Generation-Family
• Wide Phenotypic Variability
• Motor Nerve Conduction Velocity Normal or Mildly Decreased
• Joint Mobility Decreased
• MRI Imaging Shows Cavitation of the Basal Ganglia
• Possibly Subclinical Cardiac Involvement
• Flexion Contractures of Proximal Interphalangeal Joints
• Mutation in the Cystatin A Gene
• Prolactin Low or Not Detectable
• Corneal Dyskeratosis
• See also Autosomal Dominant Sick Sinus Syndrome - 163800
• Fragmented Mitochondrial Network
• Caused by Mutation in the Alpha-Mannosidase Gene
• Mild Diffuse Ichthyosis
• Some Patients with Advanced Loss of Vision Have Normal EOG
• Increased Muscle Tone
• Round-Shaped Iliac Bones
• Lack of Autoantibodies
• Thin or Fragmented Elastic Fibers
• Normal Dystrophin Immunostaining
• Deviation of Nasal Root
• Mitral and/or Tricuspid Valve Dysplasia
• Thyroid Stimulating Hormone Low or Absent
• Allelic Disorder Is Brugada Syndrome
• Maxillary Decalcification
• Hypoplastic Mandibular Condyle
• Hypertrophic Labia Minora
• Predominant Loss of Pain and Temperature Sensation
• Abnormal Mitochondria Morphology
• Mutation in the Mitochondrial Methionyl tRNA Formyltransferase Gene
• Complete Penetrance but Extreme Variability of Phenotypic Expression
• Memory B-Cell Dysfunction
• Urine Mannose-Containing Oligosaccharides Increased
• Absence of Gamma-Sarcoglycan Protein
• Number of Elastic Fibers Reduced
• Allelic Disorder Is Long QT Syndrome Type 3
• Fibrosis without Fatty Infiltration or Ductular Proliferation
• Growth Hormone Decreased or Absent
• Darkly Pigmented Skin
• Laterally Sparse Eyebrows
• Migraine with or without Aura
• Severe Developmental Delay
• No Speech Problem
• Oral Hypotonia
• Lipid and Glycogen Accumulation
• Corneal Erosions
• Patchy Muscle Fiber Degeneration
• Electrooculography Shows Low Arden Ratio
• Saccadic Slow Pursuit
• Abnormal Vertebral Bodies (Ovoid, Flat, Beaked)
• Prominent Superficial Blood Vessels due to Thin Skin
• Onset in Utero, Infancy or Early Childhood
• Onset around Puberty
• Pectus Anomalies
• Open Fontanelles - Untreated Hypothyroidism
• Bilateral Sensorineural Hearing Loss
• May Be X-Linked
• Broad Metatarsal Bones
• Neuropathic Process Seen on Muscle Biopsy
• Most Cases Are Responsive to Steroids
• Muscle Biopsy Shows Dystrophic Pattern
• Abnormal REM Sleep
• Electroretinography Responses Normal or Decreased
• Clumsiness in Childhood
• Prevalent Among the Amish
• Candidiasis Is Restricted to Nails of Hands and Feet
• Skin Abnormalities Tend to Decrease with Age
• No Structural Defects
• Prominent Earlobes
• Open Sutures (Untreated Hypothyroidism)
• Progressive Sclerosis with Age
• No Dysmorphic Features
• Impaired Smooth Pursuit in Adult Patients
• EMG Shows Neurogenic Findings
• Loss of Independent Ambulation around Age 12 Years
• Macular or Multifocal Vitelliform 'Egg Yolk' Deposits
• Gingival Overgrowth
• Absent or Small Sphenoidal Sinus
• Sensorineural Hearing Loss Has Been Reported
• Flattened Epiphysis of the Lower Tibia
• Mutation in the HEAT Repeat Containing Protein 2 Gene
• No Endobones
• No Pick Bodies or Lewy Bodies
• Hypotonia (untreated Hypothyroidism)
• His-Ventricular Conduction Time Increased
• Amount of Elastin Decreased
• Slight Deviation of Maxilla
• Progressive Retinal Degeneration in Adults
• Narrow Alae Nasi
• Caused by Mutation in the Bestrophin-1 Gene
• Pyramidal Tract Hypoplasia
• Mutation in the Ribosomal Protein S29 Gene
• Metaphyseal Irregularity of the Upper Tibia
• SLC25A4 Mutations Account for Approximately 4% of all PEO Cases
• Abnormal Mucus
• Severely Impaired Ciliary Motility