Sitemap | Symptoma 28701 to 28800 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Mutation in the Downstream of Tyrosine Kinase 7 Gene Gastric Hernia Hypophosphatemia due to Decreased Renal Tubular Phosphate Reabsorption Most Patients Die in Infancy Panarteritis Arterial Stenosis due to Myointimal Proliferation Cardiac Dysfunction Pseudoxanthomatous Skin Lesions Conductive Deafness Periumbilical Pseudoxanthomatous Skin Lesions Multiple Supernumerary Teeth Death about 20 Years after Symptom Onset Marbled Skin due to Telangiectasia Prominent Venous Pattern Hypodensity of the White Matter Distal Tapering of the Carotid, Cerebellar, and Meningeal Arteries Leptomeningeal Angiomatosis Variable Hearing Loss and Ocular Findings Hearing Loss Occurs in Late Childhood Mutation in the Collagen Type 4 Alpha 4 Gene Corneal Endothelial Vesicles Pigmentary Changes ('Flecks') in the Perimacular Region See Also OCA1A Individuals May Accumulate more Pigment in Hair and Eyes with Age Highly Variable Phenotype with Regard to Pigmentation Yellow Hair in Individuals of African Descent Hair Darkens with Age White to Golden Blonde or Red Hair No Tanning Tone Does Not Appreciably Change with Age White at Birth Iris Pigment Decreased Usually Lethal in the Neonatal Period Mutation in the PRRX1 Gene Blind-Ended Trachea Trachea-Oropharynx Connection Agenesis Hypoplasia of Oropharynx Urine Glycosphingolipids Increased (e.g., Globotriaosylceramide) Most Cases Occur De Novo Symptoms Are Aggravated by Febrile Illness Mutation in the FKTN Gene Patients Achieve Independent Ambulation but May Lose It Mutation in the Gamma Aminobutyric Acid A Receptor, Gamma 2 Gene Progressive, Severe Contractures Onset between Age 2 and 15 Years Caused by Mutation in the Aspartyl-tRNA Synthetase 2 Gene Decreased Proprioception and Vibration Sense Lesions Are Symmetrical Fetal Pads Small Slender Palms Sterotypical Movements Caused by Interstitial Duplication - 3.7 Mb of 17p11.2 Structural Cardiovascular Abnormalities Oral-Pharyngeal Dysphagia Long Nasal Tip No Overt Seizures Death in Early Infancy Mutation in the TMEM15 Gene Profound Muscular Hypotonia Deep-Set Nails Hypoplasia of the Distal Phalanx of the 5th Toe Hypoplasia of the Thenar and Hypothenar Eminences Clinodactyly of the 1st Finger Wide Space between the Thumbs and the 2nd Fingers Short Proximal Arms Hypoplastic Pelvic Girdle Coronal Cleft in C2-C5 Hypoplasia of Supraorbital Ridges Hypoplastic Malar Area Short Forehead Perinatal Lethality Redundant Connective Tissue Skin Folds around the Neck Abnormally Folded Ears Bowel Hypoplasia Periportal and Perivenular Fibrosis Perivascular Nerve Fiber Proliferation Placental Weight Increased Swollen, Globular Body Mutation in the KIF7 Gene Deep Set Ears Mutation in the VPS13A Gene Intermittent Neck Flexion De Novo Deletions in 8% of Patients Due to Hemizygous Deletion of 4p16.3 Hemizygous Deletion at 4P16 3 Marked Intrauterine Growth Retardation Tethered Cord White Matter Hyperintensities on T2 Imaging Mild Premature Aging Altered Visual Acuity Textured Food Intolerance Voiding Frequency/Urgency Microangiopathic Telangiectasia Progressive Loss of Visual Acuity Death Occurs 5 to 10 Years after Onset Caused by Mutation in the 3-Prime Repair Exonuclease 1 Gene Glomerular Dysfunction Subcortical Lesions with Edema Periventricular White Matter Lesions
