18101 to 18200 most common queries

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

• Mutation in the Slow Type Myosin Binding Protein C Gene
• Muscle Atrophy, Primarily in the Legs
• Mutation in the PEX10 Gene
• Plasma Pipecolic Acid Increased
• Plasma Phytanic Acid Increased
• Plasma Pristanic Acid Increased
• Branched-Chain Fatty Acids Increased
• Distal Muscle Atrophy
• Bile Acid Intermediates DHCA and THCA Increased
• Pristanic Acid Increased
• Normal Anterior Pituitary Function
• Gonadotropin Decreased
• Mutation in the Gonadotropic Releasing Hormone 1 Gene
• Few to No Follicles on Ultrasonography
• Variable Expressivity within a Family
• Mutation in the KISS1 Receptor Gene
• Near Normal Pubic Hair
• Number of Follicles Seen on Ultrasound Reduced
• Small Ovaries
• Low Testosterone in Males
• Partial or Complete Gonadotropin Deficiency
• Flunarizine Treatment May Be Beneficial
• Levels of Certain Coagulation Factors Decreased
• Some Patients May Not Have Recurrent Infections
• Highly Variable Clinical and Immunologic Phenotype
• Fibrosing Pneumonitis
• Numbers of T Regulatory Cells Decreased
• Defective T Cell Proliferative Responses
• Progressive Postnatal Microcephaly
• Atrophy of the Pons
• Global Developmental Delay of Variable Severity
• PTH Mildly Increased
• Urinary Excretion of Pyridinoline Normal
• Redundant Umbilical Skin
• Congenital or Perinatal Onset
• Neuronal Loss in the Striatum, Cerebral Cortex and Cerebellum
• Caused by Somatic Mutations
• Alpha/Beta+ CD4-/CD8- T Cells Normal or Mildly Increased
• Risk of Hematologic Malignancy Increased
• Dull-Appearing Central Foveal Reflex
• Intracranial Aneurysms
• Aberrant Gamma Interferon-Mediated Inflammation
• Immunoglobulins Progressively Decreased
• Decreased Memory B Cells Progressive
• Progressive Lymphopenia
• Disseminated Infection with Dimorphic Fungi
• Recurrent Infections - Bacterial Viral Fungal Myobacterial
• Chronic Recurrent Candidiasis
• Villous Atrophy
• Puberty Delayed
• Pale Hair
• Lack of Dense Granules in Platelets
• Bleeding Tendency due to Platelet Defect
• Variable Features and Severity
• Mutation in the CFC1 Gene
• Mutation in the Transcription Factor SP7 Gene
• Some Patients May Benefit from Coenzyme Q10 Treatment
• Coenzyme Q10 Levels in Muscle Decreased
• Mild Lower Motor Neuron Involvement (EMG)
• Onset of Symptoms in First Decade of Life
• Mutation in the KCNJ5 Gene
• Severe Hypertension
• Histologically Normal Adrenal Gland
• Atrophic Zona Glomerulosa of Adrenal Gland
• Hyperplasia of Zona Glomerulosa of Adrenal Gland
• Hyperplasia of Zona Fasciculata of Adrenal Gland
• Aldosterone Secretion Elevated
• Amount and Activity of Mitochondrial Complexes I and IV Decreased
• Defective Oxidative Phosphorylation in Fibroblasts
• Oromotor Difficulties
• Severely Delayed Speech Development
• Corneal Diameter Decreases with Decreasing Axial Length
• Corneal Steepening Proportional to the Degree of Axial Foreshortening
• Thinning of Central Cornea
• Shallow Anterior Chamber and Angle
• Ventricular Repolarization Abnormalities
• Sensorimotor Polyneuropathy
• Cerebellar Atrophy Progressive
• Risk of Developing Early Onset Aggressive Cancers Increased
• Small Cell Carcinoma of the Ovary of Hypercalcemic Type
• Mutation in the WDR72 Gene
• Variable Malocclusions
• Teeth Sensitive to Thermal and Physical Stimuli
• Enamel Layer Shows Reduced Radiodensity
• Rough Enamel
• Posteruptive Loss of Surface Enamel
• Creamy Enamel at Time of Eruption
• Opaque Enamel at Time of Eruption
• Left Ventricular Systolic Dysfunction
• Dilated Aortic Root
• Mutation in the SCN3B Gene
• Brugada Pattern on Electrocardiography
• Sparse, Androgenic Hair
• Hypergonadotropic Hypogonadism
• Bilateral Reduced Visual Acuity
• Progressive Mild Sensorineural Hearing Loss
• Sensory Motor Axonal Neuropathy
• Myopathic and Neurogenic Changes Seen on EMG
• Psychiatric Abnormalities
• Temporo-Occipital Polymicrogyria