Sitemap | Symptoma 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
