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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