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29401 to 29500 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Creatine Kinase in Acute Stage Increased
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