21301 to 21400 most common queries

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

• Defect in B-Cell Differentiation
• Caused by Mutation in the Complement Component Receptor 2 Gene
• Proper Antibody Response to Protein Vaccinations
• IgM Low-Normal
• Lack of Bunina Bodies
• Lack of Skein-Like Inclusions
• Intraneuronal Inclusions
• Lack of Upper Motor Neuron Signs
• Caused by Mutation in the Acylglycerol Kinase Gene
• Feeding Difficulties Ameliorate with Age
• Phenotype and Severity Variable
• Ectopic Dorsal Pontine Transverse Bundle of Fibers Forms the 'Cap'
• Hypoplastic or Absent Middle Cerebellar Peduncles
• Absence of the Inferior Olives
• No Motor Skills Acquired
• Recurrent Cellulitis
• Relative Brachydactyly
• Fleshy and Overfolded Helices
• Low-Normal Height
• Pectus Excavatum Below
• Caused by Mutation in the Coiled Coil Domain Containing Protein 103
• Recurrent Cough
• Variable Inner and Outer Dynein Arm Defects
• Loss of Ciliary Beat Coordination
• Poor Visual Attention
• Loss of Motor Neurons in the Spinal Cord
• Loss of Cerebellar Granular Cells
• Lack of Motor Milestones
• Posterior Wall Thickness Increased
• Periodic Pre- and Postovulation Fever
• Luteal Phase-Dependent Periodic Fever
• High Fever Recurrent with Each Menstrual Cycle
• Symptoms Relieved by Serotonin Antagonist
• Symptoms Relieved by Progesterone Antagonist
• Symptoms Relieved by Ovarian Suppression
• Mutation in the HTR1A Gene
• IL-6 Continuously Increased
• TNF Continuously Elevated
• Fetal Loss after 6-7 Weeks of Gestation
• Recurrent Spontaneous Abortion
• Myalgia with Febrile Episodes
• Lower Extremity Weakness with Febrile Episodes
• Ataxia with Febrile Episodes
• Tremor with Febrile Episodes
• Diabetes - in Affected Males
• Mild Hypercortisolism
• Mutation in the CEP135 Gene
• Myocytes with Nuclei of Globular Morphology
• Focal Mild Interstitial Fibrosis
• Mutation in the Phospholipase C Beta 4 Gene
• Mutation in the GUCY2C Gene
• Prolonged Diarrhea in Infancy
• Microcolon on Contrast Enema
• Inspissated Meconium in Distal Ileum
• Failure to Pass Meconium after Birth
• Premature Pubarche
• Elevated Androgen Metabolite Excretion Level
• Cortisol Excretion Rate Increased
• High Absolute Level of Cortisone Metabolites
• Cortisol Metabolites Decreased to Normal
• Cortols : Cortolone Ratio Low
• This Patient Died at Age 2 Years
• Activity of Complexes II and III Decreased
• Decreased Coenzyme Q10
• Poor Responsiveness
• Mutation in the DST Gene
• Episodic Erythematous Blotching
• Hip Extension Restricted
• Few Fungiform Papillae on the Tongue
• Persistently Open Mouth
• Lack of Neurologic Development
• This Patient Died at Age 8 Months
• Bilateral Signals in the Basal Ganglia
• Early-Onset Deafness
• Respiratory Complex I+III and II+III Activity Decreased
• Possibly Response to Oral Coenzyme Q
• Possibly Death in Childhood due to End Stage Renal Disease
• Mutation in the Homolog of the S Cerevisiae COQ6 Gene
• Diffuse Mesangial Sclerosis
• Most Patients Die in First Years of Life
• Mutation in the Isoprenoid Synthase Domain Containing Protein Gene
• Limb Deformations
• Arrested Retinal Development
• Disruption of the Basal Lamina (Skeletal Muscle Biopsy)
• Brain Vascular Anomalies
• Subcortical Heterotopia
• Acentric or Irregular Corneal Video Keratography Shapes
• Fragmentation of Bowman Membrane
• Stromal Thinning
• Mutation in the ERCC8 Gene
• No Increased Sensitivity to Oxidative Species
• Some Patients Have Resolution of Symptoms in First Year of Life
• Exaggerated Startle Response to Tactile or Acoustic Stimuli
• Profound Deafness Affects All Frequencies
• Caused by Mutation in the Guanylate Cyclase 2C Gene
• Esophagitis with or without Esophageal Hernia
• Small Bowel Obstruction due to Ileal Inflammation
• Small Bowel Obstruction due to Adhesions
• Small Bowel Obstruction due to Volvulus
• Electrolyte Disturbances in Infancy