21501 to 21600 most common queries

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

• Intellectual Disability and/or Hydrocephalus (50%)
• Portal Fibrosis
• Hepatic Cytolysis
• Hepatic Involvement
• Microcystic Tubular Dilatations
• Mutation in the TTLL5 Gene
• Initial Disturbance of Central Vision
• Cone First Retinal Dystrophy
• Mutation in the DOCK7 Gene
• Large Nasal Root
• Occipital Lobe Atrophy
• Mild Pontine Hypoplasia
• Abnormally Marked Pontobulbar Sulcus
• Regression of Early Motor Skills
• Reported in Individuals of Jewish Moroccan Ancestry
• Mutation in the VPS53 Gene
• Lack of Developmental Milestones
• Low ADH
• Prolactin Decreased or Not Detectable
• Lack of Chilblain Lesions
• Alpha Interferon Activity Increased
• Hyperinflammatory State
• Lupus-Like Syndrome
• T2-Signal Abnormalities in the Deep White Matter
• Mutation in Zinc Finger MYND-Containing Protein 15 Gene
• Thickening of Tubular Membranes
• Follicle Stimulating Hormone Level Elevated
• Oligozoospermia
• Normal Testosterone Level
• May be Exacerbated by Febrile Illness
• Mutation in the LYRM7 Gene
• Isolated Mitochondrial Complex III Deficiency (Muscle Biopsy)
• White Matter Vacuolization
• Demyelinization
• Neurologic Decompensation
• Acute Encephalopathy
• Onset between 2 and 4 Years of Age
• Mutation in the Cysteine Rich Glutaredoxin 2 Gene
• Moderate to Severe Bilateral Sensorineural Hearing Loss
• Mutation in the NECAP1 Gene
• Brain Atrophy (MRI)
• Lack of Head Control
• Somatic Mutations Occur in Adrenal Tumor Tissue
• Bilateral Adrenal Adenomas
• All Reported Mutations Have Occurred De Novo
• Absent or Poor Expressive Speech
• Skin Syndactyly 2-3
• Very Poor Expressive Speech
• Secondary Decreases in Complex I and IV Activity
• Mild Sensorineural Hearing Impairment
• Risk of Sudden Death due to Cardiac Arrhythmias
• Caused by Mutation in the Desmoplakin Gene
• Excessive Trabeculation in Right Ventricle
• Apical Aneurysm - Right Ventricle
• Fibrosis of Left Ventricle
• Biventricularly Decreased Contractility
• Biventricular Enlargement
• Brittle Nails
• Focal Keratoderma of Soles
• Striated Keratoderma of Palms
• Variable Tooth Agenesis
• Mutation in the KIAA1033 Gene
• Poor Fine Motor Skills
• Poor Adaptive Skills
• Neurologic Features Are Variable and Not Progressive
• Caused by Mutation in the Phosphoglucomutase-3 Gene
• Transferrin Glycosylation Normal
• Formation of Complex N Glycans Decreased
• UDP-GlcNAc Decreased
• Hyposialylation of O-Linked Serum Glycans
• Stimulation Increases Cytokines IL4, IL5, IL13, IL17
• Abnormal Ratios of CD4+ Helper T Cells
• CD27+ B Cells Decreased
• Increased Susceptibility to Infections (Bacterial, Viral, Fungal)
• Oromotor Deficits
• Defective Myelination
• Risk of Sudden Death
• Early-Onset Myocardial Infarction
• Early-Onset Coronary Artery Stenosis
• Low Density Lipoprotein Borderline Elevated
• Body Mass Index Elevated
• Juvenile-Onset Central Obesity
• Mutation in the Adenosine Monophosphate Deaminase 2 Gene
• Poor Fixation
• Progressive Microcephaly (up to 9 SD)
• Defective Myelination of the Deep White Matter
• Fluid-Filled Posterior Cranial Fossa
• Absent Development
• Mutation in the DNA2 Gene
• Paraplegia Secondary to Spinal Cord Compression due to Severe Kyphosis
• Founder Effect in Turkish Families
• Flattened Nasal Root
• Mutation in the KRT13 Gene
• White, Spongy Plaques on the Pharyngeal Mucosa
• Orderly Appearance of Basal Cell Layer
• Narrow Intercellular Spaces between Vacuolated Cells
• Perinuclear Condensation
• Cell-within-a-Cell Appearance of Spinous Layer
• Basket-Weave Appearance of Spinous Layer
• Intracellular Edema of Spinous Layer