22001 to 22100 most common queries

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

• Mutation in the NOBOX Gene
• 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