Sitemap | Symptoma 22001 to 22100 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Primordial or Primary Follicles on Histology Absence of Follicles (Histology) Reduced or Absent Follicles (Ultrasound) Ovaries Small to Normal (Ultrasound) Low Anti Mullerian Hormone Level Low Inhibin B Level Luteinizing Hormone Level Elevated Variable Infectious Phenotype Mutation in the TYK2 Gene Recurrent Skin Abscesses Susceptibility to Mycobacteria Bacteria Fungi and Viruses Increased Lethal Respiratory Insufficiency at Birth Severe Multiple Joint Contractures Small or Borderline to Adequate Size for Gestational Age Severe Muscle Wasting and Atrophy, Primarily in the Legs Trauma May Accelerate Symptoms Motor Impairment More Significant than Sensory Impairment Adult Onset May Occur Caused by Mutation in the Homolog of the S Cerevisiae FIG4 Gene De- and Remyelination Thinly Myelinated Nerve Fibers Nerve Amplitudes Decreased Color Vision Abnormalities Arteriolar Attenuation Funnel Shaped Papillomacular Fold Macular Reflex Reduced Posterior Microphthalmia Unexplained Fever Congenital Septal Defects Hunger and Thirst Disturbances Symptoms of Hypothalamic Disturbances Mutation in the FK506 Binding Protein 10 Gene Mutation in the GLI2 Gene First Branchial Arch Anomalies Mutation in the SYNE1 Gene Brisk Lower Limb Reflexes Mutation in the PROK2 Gene Synkinesia Lateral Deviation of Tibiae Mutation in the TSEN54 Gene Progressive or Slowly Progressive Mutation in the RNASEH2B Gene Interferon Alpha Signal Increased Intracranial Calcification Affecting the Basal Ganglia Cognition Normal Progressive Neurologic Dysfunction Quadricuspid Pulmonary Valve Distal Phalanges Absent Caused by Mutation in the Beta-B3 Crystallin Gene Cortical Cataract Caused by Deletion of 4.06 Mb of Chromosome 14q22.1-q22.3 Bilateral Pedunculated Postminimi Overlapping Left Central Incisor Absence of Upper and Lower Lateral Incisors Mild Exophthalmos Mild Unilateral Hearing Loss Mild Ventricular Enlargement Mild Segmental Callosal Hypoplasia Myocardial Contractility Decreased Obstruction of Airways due to Sloughed Mucosa Midcytoplasmic Retraction of Tonofilament Skeleton Absence of Inner Dense Plaque Half Desmosomes Present Hypoplastic Desmosomes Number of Desmosomes Decreased Swollen Mitochondria Acantholysis throughout Epidermis Globular Distal Phalanges Syndactyly of 2-3, 3-4 and 4-5 Fingers Retroverted Ears Unravelling of Superior Helices Squared-Off Superior Helices Focal Alopecia Broad and Elongated Columella Nasal Clefting Skeletal Muscle May Show Less Severe mtDNA Deletion Additional Developmental Abnormalities May Be Seen in Some Patients Feet Are Unaffected in Some Patients Hypoplastic Nails of Some Affected Fingers and Toes Decreased Flexion Creases Distorted Triradii of Palmar Skin Migrating Focal Seizures Triggers Are Variable Even within a Family Mutation in the Keratin 10 Gene Mutation in the COL2A1 Gene Fiber-Type Grouping Pattern Neurogenic Changes Myopathic Changes (Biopsy) Irregular Respiratory Pattern Anemia Requiring Transfusions Flexion Contractures of Upper and Lower Extremities Small, Pale Optic Discs Hypotonicity Cerebellar Hypoplasia or Agenesis Hyperglycemia and Insulin Decreased to Non-Detectable C Peptide Levels Low Mutation in the PCYT1A Gene Selective Decrease in Small Myelinated Fibers (Sural Nerve Biopsy) Mutation in the Ribose 5-Phosphate Isomerase A Gene Nystagmus on Lateral Gaze
