38401 to 38500 most common queries

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

• Abdominal Distention due to Mass Effect of Liver
• Repeated First-Trimester Abortions in Mothers
• Recurrent Infections - Particularly Herpes Viral
• Azygous Connection
• Hematocrit Increased
• Idiopathic Generalized Epilepsy in Childhood
• Mutation in the NSD1 Gene
• Severe Rickets
• Early Cataracts
• Recurrent Respiratory Infections due to Defective Cilia
• Multicystic Kidney
• No Retinal Degeneration
• Mutation in the Cytochrome C Oxidase Subunit VIIb Gene
• Organic Aciduria
• Narrow Alar Root
• Elevated Androgen Metabolite Excretion Level
• Restrictive Syndrome
• Caused by Mutation in the Collagen Type 4 Alpha-1 Gene
• Exertional Dyspnea
• Relative Paracentral Scotoma in 2:3 of Patients
• Pigmentary Retinal Changes
• Proportionate Short Stature (<5th Percentile)
• Pituitary Amphophil Hyperplasia
• Caused by Mutation in the Tetraspanin 12 Gene
• Electroretinogram Decreased or Absent
• Early Glaucoma
• Ventricular Hypertrophy
• Microbleeds
• Prominent Central Incisors
• Visual Acuity for Distant Vision Ranges from 1/10 to 2/10 as Adult
• Nail Dysplasia
• Cortisol Excretion Rate Increased
• Broad Mid Nose
• Well Preserved Focal Macular Cone ERG
• Normal Psychomotor Development until Age 2 to 3 Years
• Multiple Retinal Holes
• Postnatal Microcephaly (2-5.5 SD)
• Uninvolved Unremarkable Skin
• High Visual Evoked Potentials to Flash
• Albumin Decreased
• Mutation in the Pulmonary Associated Surfactant Protein A2 Gene
• Hypotelorism
• High Absolute Level of Cortisone Metabolites
• Diffuse Collagen Sclerosis
• Axial Length of Globe Increased
• Ocular Axial Length Increased
• Some Phenotypic Overlap with Rett Syndrome
• Rod Function Preserved
• Avascularity of Peripheral Retina
• Moderate Photophobia
• Poor Speech or No Speech
• Anomalous Middle Ear Bones
• Multiple Lateral Meningoceles
• No Intraepidermal or Subepidermal Cleavage in Perilesional Skin
• Exon 7 of SMN1 Is Absent in 95.6% of SMA1 Patients
• Cortisol Metabolites Decreased to Normal
• Severe Pulmonary Hypertension in End Stage Disease
• Arm Span to Height > 1.05
• MRI Scan showing White Matter Lesions
• Elastic Globules in Papillary Dermis
• Happy Disposition
• Males Rarely Affected
• Defective Color Vision in Some Patients
• Bilateral High Grade Myopia
• Incomplete Jaw Opening
• Isolated Optic Atrophy
• Caused by Defect in the Solute Carrier Family 10
• Mutation in the SERPINB7 Gene
• Perilesional Regeneration of Dermis
• Atrophic Muscle Fiber on Biopsy
• Age at Onset: Birth to 6 Months
• Mean Adult Height 175.4 +- 8.2 cm for Females
• Adenocarcinoma of Lung
• Cortols : Cortolone Ratio Low
• Enlarged and Fragmented Elastic Fibers
• Volume of the Cerebral White Matter Decreased
• Motor Dyspraxia
• Approximately 0.7 dB Hearing Loss Per Year at All Frequencies
• Partial Optic Atrophy
• Pericardial Fibrosis Requiring Pericardiectomy
• ST Elevation
• Subluxed Hand Joints
• LDL Cholesterol Decreased
• Honeycomb Fibrosis (Age at Onset and Location Variable)
• Mean Adult Height 191.3 +- 9 cm for Males
• This Patient Died at Age 2 Years
• Initially Normal Motor Conduction Studies
• Distinct Odor of Palms and Soles
• Patchy Erythroderma on Cheeks and Chin
• Eczema-Like Lesions
• Progressive Diaphyseal Widening
• Psychomotor Regression May Occur
• Language Development Limited to a Few Words
• Progressive Hearing Impairment
• PaO2 Decreased
• Recurrent Laryngotracheal Stenosis
• Hearing Loss Sensorineural Progressive
• Bile Acid Malabsorption in the Ileum
• Mean Length at Birth 52.5 +- 3.5 cm for Females
• Pulmonary Fibrosis with Fibroblast Foci (Histology)