19801 to 19900 most common queries

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

• Progressive Spastic Diplegia to Quadriplegia
• Centrally Placed Hair Whorl
• Externally Rotated Feet in Valgus Position
• Distal Limb Contractures
• Prominent Secondary Alveolar Ridges
• Mild Blepharophimosis
• Atonic Pupils
• Short Prominent Overhanging Philtrum
• Fused Hypoplastic Labia Minora
• Muscle Mass Decreased - Especially Distally
• Deep Tendon Responses of Lower Extremities Increased
• Thickened Frontal Cortex
• Severe Spastic Quadriplegia
• Most Patients Are Severely Affected
• Caused by Mutation in the Post-GPI Attachment to Proteins 2 Gene
• Disordered Sleep Pattern
• Renal Ultrasound at Ages 4 and 7 Normal
• Risk of Miscarriage Increased
• Decreased NK Cells, Particularly NK-Cell Precursors
• B Cell Lymphopenia
• Dendritic Cell Cytopenia
• Recurrent Infections, Especially Viruses and Fungi
• Susceptibility to Myeloid Leukemia
• Susceptibility to Myelodysplasia
• Old Order Amish and Turkish Patients Reported
• Severe to Profound Congenital Sensorineural Hearing Loss
• Learning and Developmental Delay
• Gonadotropin Increased
• Caused by Mutation in the WD Repeat-Containing-Protein-35 Gene
• Absent Ossification of Radii, Ulnae, Tibiae, and Fibulae
• Gastrointestinal Malrotation
• Splenic Dysgenesis
• Pancreatic Dysgenesis
• Markedly Shortened Ribs
• Large, Fleshy Ears
• Dysplastic Kidneys
• Respiratory Insufficiency at Birth
• Progressive Respiratory Insufficiency
• Decreased Chest Wall Compliance due to Muscular Hypertonicity
• No Clinical Details Provided by the Authors
• Asphyxiating Thoracic Dystrophy or Jeune Syndrome
• Hyperintensities in Basal Ganglia and/or Thalamus
• Thin Cortex Bone
• Poor Muscle Mass
• Subsarcolemmal Mitochondrial Aggregates
• Severe Rickets
• Caused by Mutation in the Tetraspanin 12 Gene
• Nasally Displaced Pupils
• Tractional Retinal Detachment
• Avascularity of Peripheral Retina
• Caused by Defect in the Solute Carrier Family 10
• Bile Acid Malabsorption in the Ileum
• Fecal Bile Acid Increased
• Chronic Watery Diarrhea
• Dyspnea due to Respiratory Muscle Weakness
• Mutation in the NT5C2 Gene
• Hyperextension of Knees
• Onset of Disease within the First Year of Life
• Enteric Fistula
• Severe Enterocolitis in the First Year of Life
• Often Death in Adolescence
• Life Expectancy Decreased
• Hypokinetic Movements
• Very Rarely Retinal, Hepatic, Pancreatic, and Renal Anomalies
• Thoracic Abnormalities Tend to Improve with Age
• Variable Severity Even within Families
• Respiratory Problems due to Small Thorax
• Defect in Retrograde Intraflagellar Transport in Cilia
• Hypoplastic Ulna
• Cleft Lip - Cleft Palate
• Cystic Pancreas
• Biliary Dysplasia
• Shortened Ribs
• Cloacal Developmental Abnormalities
• Fatal without Bone Marrow Transplantation
• High EBV Viral Load
• CD4+ T Cells Depleted
• Natural Killer T Cells Decreased
• ITK Protein in Lymphoid Tissue Decreased
• Increased Risk for Hodgkin's Lymphoma
• Optic Disc Abnormalities
• Fine Iris Processes Extending to Schwalbe Line for 360 Degrees
• Anterior Iris Surface and Stromal Abnormalities
• Flattened Corneal Topography
• Posterior Amorphous Corneal Dystrophy, Extending to Corneal Limbus
• Subepithelial Opacities and Haze Most Dense Centrally
• Production of Cytokines by T Cells Decreased
• Respiratory Difficulties, Upper Airway Obstruction
• Favorable Response to Oral Creatine Treatment
• Plasma and Urine Guanidinoacetate Decreased
• Muscle Biopsy Shows Fiber Type Variation
• Muscle Weakness Predominantly Proximal
• Brain Creatine Content Decreased (MRS)
• Symptoms Improve with Sleep
• Autonomic Signs
• Mutation in the SYNGAP1 Gene
• Minimum Duplication Includes BHLHA9
• Less than 50% Penetrance in Some Families
• Marked Phenotypic Variability Even within an Individual
• Duplication of 120-527 kb on 17p13.3