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27001 to 27100 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Neuropathology Shows Neuronal Degeneration
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