41901 to 42000 most common queries

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

• Loss of Facial Subcutaneous Fat
• Bile Duct Dilatation
• Irregular Cuticles on Hair Shafts
• Severe Profound Mental Retardation
• Intense Pruritis
• Prominent Alae Nasi
• Slowing - Theta Waves Occipital Right
• No Renal Disease
• Mean Female Height: 124 cm
• Absence of Eosinophilia in Other Intestinal Segments
• Reduced CD4+ Count and Proportionally Increased CD8+ Count
• Muscle-Specific Phosphorylase Kinase Activity Decreased
• Osteosclerosis of the Calcaneus
• Entamoeba Histolytica
• Thinning of Central Cornea
• Profound Muscle Fiber Atrophy
• Lipodystrophy Generalized Panniculitis Induced
• Hypotrichosis of the Scalp
• Mutation in the TMEM16E Gene
• Carrier Females Are Normal
• Mean Male Adult Height 131 cm
• Recurrent Episodes of Dehydration
• Recurrent Blistering
• Slowing - Theta Waves Central Right
• Relative Sparing of Fovea
• Thickening of Basal Epithelial Layer and Elongation of Papillae
• Muscle Biopsy Shows Mitochondrial Paracrystalline Inclusions
• Normal Number of T and B Lymphocytes
• Favorable Response to Riboflavin
• Osteosclerosis of the Talus
• Proliferation of Fatty Tissue in Muscle
• Number of B Cells Normal
• Nemaline Bodies on Gomori Trichrome Staining
• Shallow Anterior Chamber and Angle
• Mutation in the SMS Gene
• Hypotonia in Infancy and Early Childhood
• Mutation in the Coiled Coil and C2 Domains Containing Protein 2A
• Oocyst Positive Stool
• Presentation in First Year of Life
• Slowing - Theta Waves Central Left
• Long Chain Acylcarnitine Species Elevated
• Susceptible to Vaccine-Induced Polio
• Mean Age at Onset 30.7 Years
• Osteosclerosis in Short Tubular Bones of the Hands
• Mutation in the Endothelin Receptor Type B Gene
• Mild Upslanting Palpebral Fissure
• Night Blindness in Some Female Carriers
• Increased Variation in Muscle Fiber Diameter
• Mutation in the KCNJ5 Gene
• Neurogenic Changes Later in Disease Seen on EMG
• Mutation in the Solute Carrier Family 34 Member 1 Gene
• Light-Induced Sneezing
• Double Row Lower Incisors
• Mutation in the CTNS Gene
• Paroxysmal Activity - Spikes Temporal
• Ova and Parasites Positive Stool
• Frequent Protozoan, Bacterial, Viral, and Fungal Infections
• Osteopenic Shafts of Long Bones
• Caused by Mutation in the Prodynorphin Gene
• Caused by Mutation in the Transcription Factor 4 Gene
• Potassium Sensitivity Has Been Reported
• Mild to Severe Myopathy
• Possibly Decreased Visual Acuity in Female Carriers
• Difficulties with Fine Motor Skills and Coordination
• Myopathic Changes (Early Symptom, EMG)
• Increased Serum 1,25-Dihydroxyvitamin D
• Three Unrelated Turkish Families Have Been Reported
• Distally Broad Hallux
• Paroxysmal Activity - Spike-and-Slow-Wave Frontal Right
• Caused by Mutation in the Holocytochrome C Synthase Gene
• Absence of Humoral and Cellular Immune Response to Foreign Antigens
• Light Skin Pigmentation (Compared with Unaffected Sibs)
• Toxic Intestinal Dilatation
• Genetic Heterogeneity (see CILD1)
• Osteosclerosis of the Ischium
• Usually No Myopathic Changes on Biopsy
• Mutation in the Cytotoxic T Lymphocyte Associated Protein 4 Gene
• Muscular Weakness Improving in Infancy
• Thinning of the Cerebellopontine Tracts
• Normal Intelligence in Carrier Females
• Severe to Profound Prelingual Hearing Loss
• Broad Distal Phalanx of Thumb
• Mutation in the NDUFA9 Gene
• Paroxysmal Activity - Spike-and-Slow-Wave Occipital Left
• Asymmetric Linear Skin Defects (Anterior Face and Neck)
• Cerebellar Atrophy Progressive
• Thick, Indurated Skin
• Profound Mental Retardation
• Severe Colitis
• Muscle Action Potential Decreased after Warming Affected Muscle
• Short Stature in First Year of Life
• Granulomatous Lymphocytic Interstitial Lung Disease
• Osteosclerosis of Vertebrae
• Neuronal Loss in the Inferior Olives
• Genetic Heterogeneity (See CFTD1)
• Poor Head Control in Infancy
• Normal Face at Birth
• Incomplete Atretic Plate
• Choanal Atresia or Stenosis
• Paroxysmal Activity - Spike-and-Slow-Wave Temporal Bilateral