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25201 to 25300 most common queries

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

Lack of Ciliary Motility Absent Inner and Outer Dynein Arms in Respiratory Cells (EM) Mutation in the Polyribonucleotide Nucleotidyltransferase 1 Gene Static Nonprogressive Disorder Onset at Age 6-9 Months after Normal Early Development Deficiencies of Mitochondrial Complexes III and IV in Liver Muscle Biopsy Shows Peripheral Accumulation of Abnormal Mitochondria Inability to Sit or Stand Independently Severe Global Hypotonia Encephalomyopathy Mutation in the HOXC13 Gene Hair Can Be Painlessly Plucked without Force Sparse, Curly Hair on the Scalp at 5 Years of Age Total Alopecia at Birth Koilonychia of Fingernails and Toenails Fine Eyelashes Fine Eyebrows Mutation in the Histidyl tRNA Synthetase 2 Gene Two Main Phenotypes: Severe and Mild Caused by Mutation in the Glutamyl tRNA Synthetase 2 Gene Interventricular Septal Hypertrophy Intermittent Abnormal Liver Enzymes Mild Fibrosis Macrovesicular Steatosis Mitochondrial Respiration Impaired Activities of Mitochondrial Complexes I, III and IV Decreased Muscle Biopsy Shows Cytochrome C Oxidase Negative Fibers Swelling of Cerebral White Matter MRI Shows Swelling of the Deep White Matter Lack of Speech Lack of Head or Postural Control Spastic Tetraparesis Delayed Psychomotor Development Deficiency of Mitochondrial Respiratory Enzymes I, III, and IV Prominent Sulci Little Spontaneous Limb Movement Floppiness Monosialo- and Trisialotransferrin Increased (Type 1/2 Pattern) Onset within the First Decade of Life Mutation in the CALM1 Gene Prominent U-Waves in Anterior Leads Patients Have a Distinctive Shallow U-Shaped Audiogram Mutation in the CABP2 Gene Normal Middle Ear Pressures on Tympanometry Normal Static Compliance on Tympanometry Stable Bilateral Symmetric Prelingual Deafness Onset in First 2 Years of Life Mutation in the Vacuolar Protein Sorting-Associated Protein 37A Gene Vibration or Position Sense Decreased Mild to Moderate Cognitive Impairment Unsteady Standing Phenotypic Variability due to Oligogenic Inheritance Susceptibility due to Mutation in the SEMA3A Gene Hyposmia or Anosmia LH and FSH Low to Normal Deafness Congenital Sensorineural Severe to Profound Variable Age at Onset Caused by Mutation in the Periaxin Gene (PRX) Vocal Cord Paresis Focally Folded Myelin Focal Myelin Thickening Sural Nerve Biopsy Shows Demyelination Sensory Ataxia Onset in Young Adulthood Mutation in the DNAJ-HSP40 Homolog Subfamily B Member 2 Gene Mild Dysphonia Mild Proximal Muscle Weakness of Lower Limbs Distal Muscle Weakness (Lower Limbs > Upper Limbs) Amplitudes of Lower Limb Motor Nerves Decreased Areflexia of the Upper and Lower Limbs Mutation in the Heparan Sulfate 6-O-Sulfotransferase-1 Gene Bilateral Genu Valgum Osteopenia or Osteoporosis Small Pituitary Gland Gonadotropins Low to Normal Testosterone Low in Males Lack of LH Pulsatility Skin Lesions Worsen with Heat or Sun Exposure Mutation in the PLCG2 Gene Vesiculopustular Lesions Recurrent Blistering Skin Lesions Lack of Autoantibodies Memory B-Cell Dysfunction Corneal Erosions Corneal Blisters Prevalent Among the Amish Mutation in the HEAT Repeat Containing Protein 2 Gene Severely Impaired Ciliary Motility Variable Defects of Inner Dynein Arms Infertility due to Immotile Sperm Transient Evoked Otoacoustic Emissions Cannot Be Detected No Auditory Brainstem Response to 100 dB Stimulus Hypertrophy of the Sternocleidomastoid Muscle Head Tremor Caused by Mutation in the WD Repeat-Containing Protein 11 Gene Thelarche Delayed or Absent Gonadotropins Low or Normal Estradiol in Females Low Patients Have Normal Pituitary Function Mutation in the ABCD4 Gene