27401 to 27500 most common queries

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

• Gross Motor Skill Delay (Infancy)
• Neutrophil Maturation in Bone Marrow Intact
• Peripheral Neutrophil Counts Low
• Cytotoxic Activity of CD8+ T Cells Decreased
• IgG Decreased in Adolescence (in 2/4 Patients)
• Percentage of IgD+ IgM+ CD27+ Memory B Cells Decreased
• Percentage of Naive IgD+ IgM+ CD27+ B Cells Increased
• Total Number of CD19+ B Cells Increased
• Thick Fleshy Lips
• Wide, Open Mouth
• Downturned Pointed Nasal Tip
• Beaked Nasal Bridge
• Protruding Lower Face
• Happy Personality
• Atrophy of the Frontal and Parietal Cortex
• Agenesis or Hypoplasia of the Corpus Callosum
• Bulging of the Caudate Nuclei
• Unstable Ataxic Gait
• Poor or Absent Speech Development
• Normal Sclerae
• Alkaline Phosphatase Increased during Hyperplastic Callus Formation
• Metaphyseal Bands Adjacent to Growth Plate
• Hyperplastic Callus
• Calcified Interosseous Membrane - Forearms
• White to Faintly Blue Sclera
• Onset of Fractures at Age 4-18 Months
• No Easy Bruisability
• Short Stature in Childhood
• Bowed Extremities
• Osteoid Volume Increased
• Fish Scale-Pattern of Lamellae
• Unilateral or Bilateral Coxa Vara
• Vertebral Compression Fractures
• Bone Mineral Density Reduced
• Moderately Deforming Osteogenesis Imperfecta
• Lack of Treatment Results in Early Death
• Mutation in the PSAT1 Gene
• Cerebrospinal Fluid Glycine Decreased
• Cerebrospinal Fluid Serine Decreased
• Glycine Decreased
• Serine Decreased
• Mutation in the Radixin Gene
• Symptoms Often Decrease or Remit with Age
• Favorable Response to Anticonvulsants
• Sensory Aura May Occur
• Frequency of 1 to 20 Episodes Per Day
• Episodes Last up to 2 Minutes
• Episodic Choreic Movements
• Cone Responses Decreased (ERG)
• Rod Responses Extinguished on ERG
• Reye-Like Episode
• Clinical Presentation Varies
• Caused by Mutation in the Acyl CoA Dehydrogenase 9 Gene
• Liver Transaminases Elevated
• Plasma Ammonia Elevated
• Allelic to Goldmann-Favre Syndrome
• Aperistalsis
• Minimal Supravalvular Pulmonary Stenosis
• Minimal Pulmonary Valve Stenosis
• Visceral Neuromyopathy
• Variable Terminal Deficiency of Toes
• Absent Middle and Distal Phalanges (Severe Phenotype)
• Absent Distal and Absent or Hypoplastic Middle Phalanges
• Hypoplastic Distal Phalanges (Fingers II-V, Mild Phenotype)
• Variable Terminal Deficiency of Fingers
• Mild Hearing Impairment (13%)
• High Intrafamilial and Interfamilial Variability
• Dysarthria (74%)
• Many Patients Are Asymptomatic
• Urine Free Cortisol Normal
• Cortisol-Binding Globulin Decreased
• Allelic to Naxos Disease
• Normal Hair (No Wooly Hair)
• Normal Skin (No Palmoplantar Keratoderma)
• Prenatal or Perinatal Death
• See also Autosomal Recessive Form
• Vast Majority of Heterozygotes Are Asymptomatic
• Caused by Mutation in the Protein C Gene (PROC)
• High-Molecular Weight Plasma Factor VIII-VWF Multimers Decreased
• Platelet Aggregation with Ristocetin Increased
• Allelic to Autosomal Recessive PXE
• Female-to-Male Ratio 2-4:1
• Onset after Puberty
• Pitted Perioral Acneiform Scars
• Hyperkeratotic, Dark Brown Papules
• Higher Incidence in Females
• Cerebrovascular Ischemic Attacks
• Occlusion of Small Arteries
• Intimal Proliferation of Small Arteries
• Erythematous Irregular Netlike Pattern of Vessels
• Transient Cerebrovascular Ischemic Attacks
• Mutation in the SPG3A Gene
• Adult-Onset Rarely Reported
• Onset Usually in First or Second Decade
• Distal Limb Muscle Weakness and Atrophy
• Mesomelia Becomes More Evident with Age
• Lacy Iliac Wings
• Platyspondyly - Neonate
• Tooth Eruption Delayed - Primary and Secondary
• Severe Painful Episodic Superimposed Myoclonic Spasms