27001 to 27100 most common queries

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

• Brain Atrophy, Especially Frontal and Temporal Lobes
• Approximately 50 dB Loss in Adulthood
• Onset of Hearing Loss in Adolescence
• Progressive Bilateral Postlingual Sensorineural Hearing Loss
• Poorly Pigmented Hair
• Severe, Intractable Diarrhea
• Chronic Nonspecific Hepatitis
• Trichorrhexis Nodosa Type Defects
• Pili Torti Defects
• Transverse Ridging
• Hypogranulosis
• Orthohyperkeratosis
• Psoriasiform Hyperplasia
• Marked Hyperkeratosis
• Anhidrosis over Skin Lesions
• Severe Pruritus of Skin Lesions
• Periorificial Keratotic Plaque
• Mutilating Keratoderma of Palms and Soles
• Autoamputation of Toes
• Autoamputation of Fingers
• Constricting Digital Bands
• Squamous Cell Carcinoma in Area of Palmoplantar Keratoderma
• Leukokeratosis of Tongue and-or Buccal Mucosa
• Perioral Keratotic Plaque
• Keratotic Plaque around Nostrils
• Keratotic Plaque around Ear Meatus
• Perianal Keratotic Plaques
• Mutation in the FGFR2 Gene
• Hepatosplenomegaly with Extramedullary Hematopoiesis
• Areas of Deficient Ossification
• Areas of Periosteal Reaction
• Prominent Periosteum
• Mineralization of Pubis Decreased
• Narrowed Ischia
• Narrow Acetabular Roof
• Diminished Mineralization of the Calvarium
• Open Metopic Suture
• Decreased Mineralization of Inferior Margin of Scapula
• Adult Onset - Sixth Decade
• Saccadic Movements
• Impaired Vestibuloocular Reflex
• Visually Enhanced Vestibuloocular Reflex Impaired
• Impairment of Compensatory Eye Movement Reflexes
• Atrophy of Vestibular Nerves and Ganglion Cells
• Loss of Vestibular Reflexes
• Non Length-Dependent Sensory Impairment
• Loss of Cerebellar Purkinje Cells
• Minimal Rotational Nystagmus
• Micronystagmus
• Moderate Nystagmus
• B Wave on Electroretinography Absent or Reduced
• Mutation in the Mitochondrial Aconitase Gene
• Abnormal Pursuit
• Glutamate Oxidation Decreased
• Progressive Cortical Atrophy
• Only Some Achieve Rolling or Sitting
• Mutation in the FKBP14 Gene
• Restrictive Ventilation Disorder due to Severe Scoliosis
• Collagen Fibrils Normal in Shape and Diameter
• Hypertrophic Scarring
• Plantar Softness
• Hypermobility of Large Joints
• Mild to Moderate Osteopenia
• Recurrent Dislocations
• Bluish Sclerae in Infancy
• Movements in Utero Decreased
• Profound Muscle Fiber Atrophy
• Proliferation of Fatty Tissue in Muscle
• Increased Variation in Muscle Fiber Diameter
• Mild to Severe Myopathy
• Muscular Weakness Improving in Infancy
• Poor Head Control in Infancy
• Severe Muscle Hypotonia at Birth
• Walking Independently at 2.5-4 Years of Age
• Mutation in the COL11A2 Gene
• Respiratory Compromise due to Small Size of Thorax
• Ossification of Pubis Delayed
• Delayed Ossification of Ischium
• Ossification of the Cervical Vertebral Bodies Delayed
• Posteriorly Narrowed Vertebral Bodies
• Relatively Large Skull
• Metaphyseal Cupping of Ribs
• Increased Risk of Myocardial Infarction
• A Second Patient Died at Age 3 Years
• One Patient Died at Age 7 Years
• Dysmorphic Features Were Only Reported in 1 Patient
• Abnormal Transaminases
• Electrolyturia
• Macrosomia
• Renal Tubular Insufficiency
• Mitochondrial DNA Deletion
• Mitochondrial Morphology Normal
• Expression of the VDAC1 Protein Decreased
• Respiratory Oxidation Impaired (Skeletal Muscle Biopsy)
• Dilated Lateral Ventricles
• Lack of Psychomotor Development
• Mutation in the Protein S Gene
• Secondary Intracerebral Hemorrhage
• Free Protein S and Total Protein S Decreased or Absent
• Retinal Vasculogenesis Impaired