26601 to 26700 most common queries

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

• Widespread Neuronal Loss
• Pronounced Overaction of the Frontalis Muscle
• Absent Upper Lid Skin Crease
• Allelic to Rett Syndrome
• Stereotypic Hand Movements
• Caused by Mutation in the Creatine Transporter Gene
• Urine Creatine : Creatinine Ratio Increased
• Mutation in the CUL4B Gene
• Speech Impaired or Absent
• Short Stature - 5th Percentile
• Mutation in the JARID1C Gene
• Attentional and Executive Function Impaired
• Impaired Visuospatial Perception
• Schizophrenia-Like Symptoms
• Posterior Slow-Wave Activity
• Borderline IQ to Mild Mental Retardation in Female Carriers
• Mutation in the ARHGEF9 Gene
• Seizures Are Poorly Controlled
• Seizures Provoked by Tactile Stimulation or Extreme Emotion
• Tonic Hyperekplectic Seizures
• Defect in Oxidative Phosphorylation
• Bifrontal Narrowness
• Generalized Severe Growth Retardation
• Weight for Age Decreased
• Recurrent Mycobacterial Disease (BCG and M. Tuberculosis)
• Partially Responsive to Laser Treatment
• Mildly Dystrophic Nails
• Usually No Inflammation
• Palms Soles and Oral Mucosa Are Not Involved
• Extensive Cutaneous Involvement Rarely Occurs
• Lesions Occur on the Trunk, Back, Arms, Legs, Abdomen, Buttocks
• Lesions Often Follow Blaschko Lines
• Subepidermal Capillary Ectasia
• Non-Purpuric Punctate and Linear Erythematous Rash
• Benign Esophageal Papillomas
• Heterozygous Females May Exhibit Variable Degrees of Enzyme Deficiency
• Caused by Mutation in the Phosphoglycerate Kinase 1 Gene
• Hemolytic Anemia in about 60% of Patients
• Activity of Phosphoglycerate Kinase 1 Decreased
• Myopathy in Approximately 45% of Patients
• Possibly Renal Failure with Myoglobinuria
• Central Nervous System Involvement in Approximately 50% of Patients
• MECP2 Mutations Are Those Found in Females with Rett Syndrome
• Death Usually within First 2 Years of Life
• Mutation in the MECP2 Gene
• Severe Neonatal Encephalopathy
• Mutation in the Four-and-a-Half-LIM Domains Protein 1 Gene
• Arrhythmias May Occur
• Progressive Muscle Wasting
• Muscle Atrophy Later in the Disease
• Patients Achieve Ambulation
• Symptoms Tend to Improve with Age
• See Also Later Childhood Onset Form
• Death in Childhood is Frequent due to Respiratory Failure
• Loss of Antigravity Strength
• See also Severe Early-Onset Form
• Female Carriers Possibly Less Severely Affected
• Spinal Mobility Decreased
• Inclusions Stain Positively with Nitroblue Tetrazolium
• Skeletal Muscle Biopsy Shows Reducing Bodies
• Pigmentary Changes Consistent with Retinitis Pigmentosa
• Misshapen Sperm with Decreased Motility
• Patients Often Wheelchair-Bound 30-40 Years after Onset
• Onset between Ages 10 and 25 Years
• Decreased Vibratory Sense after Sixth Decade
• Upper Limbs May Show Hyperreflexia
• Pure Spastic Paraplegia
• Systemic Iron Overload due to Ineffective Erythropoiesis
• May or May Not Be Responsive to Pyridoxine Treatment
• Female Carriers May Be Affected
• Macrocytic Anemia in Manifesting Females
• Caused by Mutation in the ATR-X Gene
• Long Thin Nose
• Caused by Mutation in the Emopamil-Binding Protein Gene
• Mutation in the L1CAM Gene
• Atrophic Thymus
• Mucosal Lymphoid Tissue Markedly Reduced
• Death due to Rapidly Progressive Pulmonary Fibrosis in Infancy
• Rapidly Progressive Interalveolar Fibrosis
• IgM and IgA Undetectable
• CD56+ Natural Killer Cells Normal
• CD19+ B Lymphocyte Count Normal
• CD3+, CD4+, and CD8+ T Lymphocytes Decreased
• Streak Ovaries with No Discernable Oocytes
• Widened Nasal Tip
• Widened Columella
• Multiple Nevi (Face and Torso)
• External Rotation of 4th and 5th Toes
• Poorly Defined Palmar Creases
• Microduplication of 3q29
• Swelling Starts to Fade by Age 30 Years
• Progressive with Full Manifestations at Puberty
• Papillomatosis of Affected Area
• Lymphedema and Swelling of the Distal Lower Limbs
• Patients Remain Ambulatory
• Coloboma - Iris, Optic Nerve
• Hypoplastic Flexion Creases
• Second Finger Overlaps with Third Finger
• Contracture
• Short Stature with Final Adult Height of 150-160 cm