20901 to 21000 most common queries

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

• T-Cell-Dependent Antibody Production Decreased
• Hemophagocytic Lymphohistiocytosis
• Cytochrome C Oxidase Activity Decreased
• Cytochrome C Oxidase Activity Mildly Decreased
• Abnormal Facial Expression Upon Smiling Laughing or Crying
• Broad, Flat Nares
• Mild Pectus Excavatum
• Death Usually by 1 Year of Age
• Caused by Mutation in the Zinc Finger Protein 335 Gene
• Prominent Helices
• Severe Microcephaly (>9 SD)
• Poor Somatic Growth
• Poor Dendritic Maturation
• Abnormal Cell Orientation
• Little Polarity in Remaining Neurons
• Loss of Neurons Affecting All Cortical Layers
• Severe Cerebral Atrophy
• Abnormal Lung Lobulation
• Mutation in the SNX10 Gene
• Fully Ossified Ethmoid Air Cells
• Narrowed Medullary Space due to Encroachment of Cortical Bone
• Dense Bones
• Unilateral or Bilateral Vision Loss
• Mutation in the MGME1 Gene
• Creatine Kinase Mildly Increased
• Gastrointestinal Symptoms
• Profound Emaciation
• Variable Deficiencies of Mitochondrial Respiratory Chain Enzymes
• Hypergonadotropic Hypogonadism - Reported in 1 Female
• Mutation in the Kelch-Like Protein 10 Gene
• Asthenozoospermia
• Epiphyseal Changes in the Proximal Phalanges Mild
• Deep-Seated Eyes
• Microcephaly (3-5 SD below the Mean)
• Complex Cardiac Malformations
• Nasal Nitric Oxide Decreased
• No Ophthalmoplegia
• Pterygia of Groin
• Pterygia of Neck
• Adducted Wrists
• Extension Contractures of Knees
• Bilateral Hip Dislocation
• Ptosis - Unilateral or More Severe on One Side
• Intrafamilial Variability in Degree of Hypotrichosis
• Normal Pubic Hair
• Hypotrichosis or Alopecia
• No Response to Dim Stimuli in Dark-Adapted State (ERG)
• Cone-Driven 1-Hz Response with Unusual Waveform (ERG)
• Positive Component on Electroretinography Reduced
• Preserved Negative Component on Electroretinography
• Difficulties in Fine Movement of the Hands
• Fibroblasts Accumulate Dol-PP-GlcNAc2Man5
• Abnormal N-Glycosylation of Transferrin
• Reduced O-Mannosyl Glycans on Alpha Dystroglycan
• Loss of Cerebral White Matter
• Absence of Spontaneous Movements
• Caused by Mutation in the Transmembrane Protein 5 Gene
• Occipital Neural Tube Defects
• Described in Individuals of Bukharan Jewish Descent
• Central Apneic Episodes May Be Fatal
• Chubby Appearance
• More than 40 Layers of Cornified Lamellae
• Regularly Spaced Holes in Granular Layer
• Amounts of Keratohyalin Increased
• Marked Desquamation of Upper Loosely Packed Scales
• Thick Cornified Layer
• Squamous Pityriasiform Appearance of Scalp
• Fine, Greyish-White Scales
• Generalized Ichthyosis Including Flexures
• Mild Alopecia
• Thick Orthohyperkeratosis
• Palmoplantar Hyperlinearity
• Generalized Fine Erythrodermic Scales
• End-Stage Renal Failure Not in All Patients
• Some Patients Respond to Immunosuppressive Agents
• Onset Usually in the First Decade
• Mutation in the DGKE Gene
• Complement Levels Normal
• End-Stage Renal Failure
• Swelling of Endothelial Cells
• Subendothelial Deposits
• Patchy Deposition of IgG and IgM
• Focal Capillary Obliteration
• Splitting of the Basement Membrane
• Subcortical Atrophy
• Impaired Executive Function
• Onset at Age 3-7 Months
• Inability to Hold Head
• Onset in Childhood
• Mutation in the Potassium Channel Subfamily T Member 1 Gene
• Nocturnal Occurrence
• Variable Features Present
• Clinodactyly 5th Finger
• Partial Preaxial Polydactyly
• Narrow Nares
• Nasolacrimal Duct Obstruction due to Ectropion of Lower Eyelids
• Mild Sensorineural Hearing Loss
• Protruding Ears
• Trigonocephaly
• Right-Sided Spleen