17601 to 17700 most common queries

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

• Naive CD4+ and CD8+ T Cells Decreased
• Chronic Viral Infections
• Caused by Mutation in the Paired Box 2 Gene
• Small Kidneys
• Biopsy Shows Effacement of Foot Processes
• Mutation in the PTPRF Gene
• Unilateral Absence of Breast Tissue
• Unilateral or Bilateral Hypoplasia or Aplasia of Nipples
• Mutation in the BBIP1 Gene
• Early Onset Severe Renal Disease
• Mutation in the Serologically Defined Colon Cancer Antigen 8 Gene
• Recurrent/Chronic Respiratory Infections
• Abnormal Corticomedullary Differentiation
• Limited Clinical Information for MKS1 Mutations (as of October 2014)
• Mutation in the Tripartite Motif Containing Protein 32 Gene
• Cystic Kidneys (Possibly Prenatally)
• Renal Dysplasia
• Renal Abnormalities
• Dental Abnormalities
• Impaired Olfaction
• Renal Hypodysplasia
• Macrophage Infiltration of White Adipose Tissue
• Impaired Lipolysis
• Small Adipocytes
• Heterozygous Carriers Have an Increased Risk of Metabolic Dysfunction
• Mutation in the Hormone Sensitive Lipase Gene
• Abnormal Fat Accumulation in the Clavicular Regions
• Abnormal Fat Accumulation in the Labia Majora
• Abnormal Fat Accumulation below the Triceps
• Abnormal Fat Accumulation in the Back
• Abnormal Fat Accumulation in Axillae
• Reduced Lower Limb Subcutaneous Fat
• Adiponectin Increased
• Caused by Mutation in the F-Box Only Protein 31 Gene
• Thick, Prominent Lips
• Fleshy Nares
• Progression of Phenotype with Age
• Vascular Tortuosity Increased
• Bilateral Hyperopia
• Bilateral Axial Length Decreased
• Mutation in the PRKDC Gene
• Postaxial Polysyndactyly
• Block of B Cell Differentiation
• Peripheral T Cells Decreased
• Hypomyelination
• Small Hippocampi
• Profound Psychomotor Developmental Delay
• Caused by Mutation in the Tenascin Xb Gene
• Male-Pattern Baldness
• Slightly Elevated 24 Hour Mean Plasma Cortisol
• Caused by Mutation in the Laminin Alpha 1 Gene
• Macular Heterotopia
• Short Pons
• Elevation and Splaying of the Superior Cerebellar Peduncles
• Severe Respiratory Insufficiency
• Centralized Nuclei Increased
• Myopathic Features Seen on Biopsy
• Mutation in the ELOVL Fatty Acid Elongase 5 Gene
• Adrenocorticotropic Hormone Low
• Most Cases due to De Novo Mutations
• Interstitial Pneumonia
• Altered T-Cell Regulation
• Autoantibodies
• Increased Susceptibility to T Cell LGL Leukemia
• Mutation in the C2CD3 Gene
• Broad Duplicated Halluces
• Buccal Frenulae
• Microcephaly (5 SD)
• Hyperlipidemia May be Partially Responsive to Fat Restricted Diet
• Facial Xanthomatous Eruptions
• Plasma Triglyceride Concentration High-Normal in Heterozygotes
• Lipoprotein Lipase Decreased
• Chylomicronemia - Refractory Fasting
• Relapsing Pancreatitis
• Low Body Weight < 10th Centile
• Onset before 10 Years of Age in All Patients
• Mutation in the SLC39A5 Gene
• Focal Atrophy of Choroid
• Mean Age at Onset: 48 Years (Range: 38-64 Years)
• Altered Horizontal Eye Movements
• Irregular Pursuit
• Inaccurate Saccades
• Abnormal Vertical Eye Movements
• Mutation in the METTL23 Gene
• Short, Upturned Nose
• Delineation of the Basal Ganglia Decreased
• Mild to Severe Cognitive Impairment
• Caused by Mutation in the Cyclin D2 Gene
• Head Circumference Enlarged
• Vascular Malformations
• Connective Tissue Dysplasia
• Vasculitic Symptoms Associated with Cold Exposure
• Caused by Mutation in the Transmembrane Protein 173 Gene
• Vasculitis - Particularly of the Capillaries
• Nailfold Capillary Tortuosity
• Eschar Formation
• Necrosis Leading to Amputation
• Acral Violaceous Plaques and Nodules
• Amputation Resulting from Acral Necrosis
• Transient Autoantibodies