29401 to 29500 most common queries

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

• Transient Macroglossia
• Transient Hepatomegaly
• Dystrophic Features
• Large Hypertrophied Fibers
• Fibrosis Increased
• Cytochrome C Oxidase Activity and Protein Decreased
• Hearing Impairment May Improve with Age
• Possibly Hearing Impairment
• Proteinuria in Those with Cystic Kidneys
• Hepatic Cysts or Fibrosis with Abnormal Liver Enzymes
• Irregular Margin of the Lips
• Hypoplasia of the Malar Bones
• Pancreatic Cysts
• Fibrocystic Liver (45%)
• Stenosis of the Aqueduct of Sylvius
• Mutation in the AFF2 Gene
• Subtle Dysmorphic Features May Be Present
• Communication Defects
• Velar Dysfunction
• Ankylosis of the Metacarpophalangeal Joint of the Thumb
• Terminal Spine Defects
• Large, Ridged Nose
• Long, Curved Eyelashes
• Poor Feeding and Sucking in Infancy
• Muscle Atrophy Affecting the Upper Back and Neck Muscles
• Possibly Subtle Manifestations in Female Carriers
• Neurologic Degeneration
• Carrier Females Show No Clinical Phenotype
• Mutation in the CHRDL1 Gene
• Glaucoma due to Lens Subluxation or Dislocation
• Iris Transillumination with Pigment Dispersion
• Iris Stromal Atrophy
• Mosaic Corneal Dystrophy 'Shagreen'
• Miosis due to Decreased Function of Dilator Muscle
• Astigmatic Refractive Errors
• Central Corneal Thickness Decreased
• Anterior Chamber Depth Increased
• Renal Failure in Second or Third Decade
• Lack of Eyebrows and Eyelashes
• Reduced Numbers of Hair Follicles
• Vascularizing Keratitis
• Deformed Temporal Lobes
• Neurologic Involvement
• Hirsutism Asymmetric and Patchy in Females
• Congenital Generalized Hypertrichosis in Males
• Lethargy or Loss of Consciousness during Illness or Fasting
• Adult Form Is Asymptomatic
• Isolated Glycerol Kinase Deficiency in Juvenile and Adult Forms
• Caused by Mutation in the Glycerol Kinase Gene (GK)
• Pseudohypertriglyceridemia in Adult Form
• Decreased Glycerol Kinase Activity
• Glycerol Increased
• Rounded Palpebral Fissures
• Wide, Flattened Earlobes
• Hourglass Midface
• Cryptorchidism May Occur
• Duchenne Muscular Dystrophy in 'Complex' Form
• Congenital Adrenal Insufficiency in 'Complex' Form
• Progressive Disease Is Seen in Some Patients
• Mutation in the Opsin Locus Control Region
• Macular Retinal Pigment Epithelial Changes
• 70-80% of Cases Are De Novo and Sporadic
• Profound Vision Loss
• Early Death due to Infection
• PRPP Synthetase Activity in Erythrocytes and Fibroblasts Decreased
• Urine Hypoxanthine Undetectable
• Uric Acid Reduced
• Delayed Motor Nerve Conduction Velocity
• Absence of Myelin in the Posterior Column of the Spinal Cord
• Female Carriers May Show Intermittent Hematuria
• Onset of Hematuria in First Year of Life (Males)
• Males More Severely Affected than Females
• Caused by Mutation in the Collagen Type 4 Alpha 5 Gene
• Deafness Sensorineural especially Affecting High Frequencies
• Caused by a 5.1 Mb Duplication of Chromosome Xq27.3-q28
• Premature Ovarian Failure in Female Carriers
• Mutation in the Phosphatidylinositol Glycan Class A Gene
• Short Anteverted Nose
• Duplicated Collecting System
• Dysplastic Pons
• Cortical Lamination Abnormal
• White Matter Immaturity
• Absence of the Olfactory Bulbs and Tracts
• Mutation in the KDM6A Gene
• Long Eyelashes Sparse Lateral Eyebrows
• Broad and-or Depressed Tip of Nose
• Occipitofrontal Circumference Less than Third Centile
• Less than Third Percentile
• Areolar Fullness in Infancy
• Behavioral Difficulties
• Aberrant Origin of Right Subclavian Artery
• Thirteen Ribs
• Misshapen Posterior Fossa
• Open Sylvian Fissures
• Severely Delayed Psychomotor Development
• Agenesis or Severe Hypoplasia of Cerebellar Vermis
• Erlenmeyer Flask Deformity of Metatarsals
• Erlenmeyer Flask Deformity of Phalanges
• Rhizomelic Shortening
• Poor Ossification of Pubis