Sitemap | Symptoma 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
