{ "url": "https://dantelabs.com/el/genes/fbn1", "gene": { "slug": "fbn1", "symbol": "FBN1", "name": "fibrillin 1", "hgnc": "HGNC:3603", "summary": null, "location": "15q21.1", "locusType": "gene with protein product", "aliases": [ "MASS", "OCTD", "SGS" ], "previousSymbols": [ "FBN", "MFS1", "WMS" ], "ensemblId": "ENSG00000166147", "entrezId": 2200, "omim": [ "134797" ], "uniprot": [ "P35555" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 48408313, "end": 48645709, "strand": "-", "ensemblTranscript": "ENST00000316623.10", "refseqTranscript": "NM_000138.5", "ensemblProtein": "ENSP00000325527.5", "refseqProtein": "NP_000129.3", "exons": [ { "start": 48408313, "end": 48411379 }, { "start": 48412569, "end": 48412743 }, { "start": 48415536, "end": 48415767 }, { "start": 48420687, "end": 48420806 }, { "start": 48421558, "end": 48421686 }, { "start": 48421952, "end": 48422068 }, { "start": 48425369, "end": 48425491 }, { "start": 48425739, "end": 48425864 }, { 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"start": 48474528, "end": 48474650 }, { "start": 48481655, "end": 48481780 }, { "start": 48483818, "end": 48483943 }, { "start": 48485374, "end": 48485496 }, { "start": 48487075, "end": 48487200 }, { "start": 48487312, "end": 48487437 }, { "start": 48488113, "end": 48488241 }, { "start": 48488368, "end": 48488493 }, { "start": 48489851, "end": 48490078 }, { "start": 48492461, "end": 48492586 }, { "start": 48494204, "end": 48494254 }, { "start": 48495123, "end": 48495260 }, { "start": 48495469, "end": 48495588 }, { "start": 48496100, "end": 48496225 }, { "start": 48497266, "end": 48497391 }, { "start": 48498985, "end": 48499038 }, { "start": 48503787, "end": 48503939 }, { "start": 48505025, "end": 48505147 }, { "start": 48508582, "end": 48508704 }, { "start": 48510044, "end": 48510169 }, { "start": 48513549, "end": 48513668 }, { "start": 48515387, "end": 48515527 }, { "start": 48516183, "end": 48516362 }, { "start": 48520659, "end": 48520817 }, { "start": 48526130, "end": 48526255 }, { "start": 48534080, "end": 48534205 }, { "start": 48537611, "end": 48537808 }, { "start": 48596283, "end": 48596378 }, { "start": 48600139, "end": 48600234 }, { "start": 48610728, "end": 48610826 }, { "start": 48613010, "end": 48613092 }, { "start": 48644606, "end": 48644950 }, { "start": 48645575, "end": 48645709 } ], "cds": { "start": 48410990, "end": 48644769 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "15", "start": 48700503, "end": 48938046, "strand": "-" }, "neighbourhood": { "release": "116", "start": 48027011, "end": 49027010, "genes": [ { "symbol": "SLC24A5", "ensemblId": "ENSG00000188467", "biotype": "protein_coding", "start": 48120990, "end": 48142698, "strand": "+", "slug": "slc24a5" }, { "symbol": "MYEF2", "ensemblId": "ENSG00000104177", "biotype": "protein_coding", "start": 48134632, "end": 48178375, "strand": "-", "slug": "myef2" }, { "symbol": "CTXN2", "ensemblId": "ENSG00000233932", "biotype": "protein_coding", "start": 48177875, "end": 48203758, "strand": "+", "slug": "ctxn2" }, { "symbol": "SLC12A1", "ensemblId": "ENSG00000074803", "biotype": "protein_coding", "start": 48178392, "end": 48304078, "strand": "+", "slug": "slc12a1" }, { "symbol": "DUT", "ensemblId": "ENSG00000128951", "biotype": "protein_coding", "start": 48331011, "end": 48343373, "strand": "+", "slug": "dut" }, { "symbol": "CEP152", "ensemblId": "ENSG00000103995", "biotype": "protein_coding", "start": 48712928, "end": 48811146, "strand": "-", "slug": "cep152" }, { "symbol": "SHC4", "ensemblId": "ENSG00000185634", "biotype": "protein_coding", "start": 48823741, "end": 48963925, "strand": "-", "slug": "shc4" }, { "symbol": "EID1", "ensemblId": "ENSG00000255302", "biotype": "protein_coding", "start": 48878085, "end": 48880173, "strand": "+", "slug": "eid1" }, { "symbol": "SECISBP2L", "ensemblId": "ENSG00000138593", "biotype": "protein_coding", "start": 48988476, "end": 49046568, "strand": "-", "slug": "secisbp2l" } ], "truncated": false }, "reports": [ { "slug": "aortic-aneurysm", "name": "Ανεύρυσμα αορτής", "diseases": [ { "mondoId": "MONDO:0019625", "name": "Οικογενής ανευρυσματική νόσος και διαχωριστική αορτική ανεύρυσμα θωρακικής αορτής", "genes": 12, "inheritance": "autosomal-dominant", "description": "Κληρονομική διεύρυνση και ρήξη της θωρακικής αορτής, που προκαλείται από μεταβολές σε γονίδια όπως τα ACTA2, MYH11, MYLK, LOX, PRKG1, MFAP5 και THSD4.", "management": "Η γνώση της πάθησης βοηθά στην τακτική απεικόνιση της αορτής, στον έλεγχο της αρτηριακής πίεσης και στη χρόνια προληπτική χειρουργική επέμβαση, καθώς και στον έλεγχο των συγγενών σας.", "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/aortic-aneurysm" }, { "slug": "marfan-like-syndromes", "name": "Σύνδρομα τύπου Marfan", "diseases": [ { "mondoId": "MONDO:0007947", "name": "Σύνδρομο Marfan", "genes": 1, "inheritance": "autosomal-dominant", "description": "Διαταραχή του συνδετικού ιστού. Ο συνδετικός ιστός προσδίδει αντοχή και ευκαμψία σε δομές σε όλο το σώμα, όπως τα οστά, οι σύνδεσμοι, οι μύες, τα τοιχώματα των αιμοφόρων αγγείων και οι καρδιακές βαλβίδες. Το σύνδρομο Marfan προσβάλλει τα περισσότερα όργανα και ιστούς, ιδιαίτερα τον σκελετό, τους πνεύμονες, τα μάτια, την καρδιά και το μεγάλο αιμοφόρο αγγείο που μεταφέρει το αίμα από την καρδιά στο υπόλοιπο σώμα (την αορτή). Οφείλεται σε μεταλλάξεις του γονιδίου FBN1, το οποίο παρέχει τις οδηγίες για την παραγωγή μιας πρωτεΐνης που ονομάζεται φιμπριλλίνη-1. Το σύνδρομο Marfan κληρονομείται με αυτοσωμικό επικρατή τρόπο. Τουλάχιστον το 25% των περιπτώσεων οφείλεται σε νέα (de novo) μετάλλαξη. Η θεραπεία βασίζεται στα σημεία και συμπτώματα του κάθε ατόμου.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": true, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ], "actionability": 12 }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0014831", "name": "Σύνδρομο Marfanoid-progeroid-lipodystrophy", "genes": 1, "inheritance": "autosomal-dominant", "description": "Συγκεκριμένες παραλλαγές του FBN1 που προκαλούν ψηλή, λεπτή σωματική διάπλαση με σχεδόν πλήρη απουσία λιπώδους ιστού και εμφάνιση μεγαλύτερης ηλικίας.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/marfan-like-syndromes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-aortic-aneurysm", "name": "Abdominal aortic aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-aortic-aneurysm" }, { "slug": "abnormal-aortic-valve-morphology", "name": "Abnormal aortic valve morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-aortic-valve-morphology" }, { "slug": "abnormal-cardiac-ventricle-morphology", "name": "Abnormal cardiac ventricle morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-cardiac-ventricle-morphology" }, { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormal-circulating-lipid-concentration", "name": "Abnormal circulating lipid concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-circulating-lipid-concentration" }, { "slug": "tooth-malposition", "name": "Abnormal dental position", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/tooth-malposition" }, { "slug": "hip-dysplasia", "name": "Abnormal formation of the hip", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hip-dysplasia" }, { "slug": "abnormal-left-ventricular-function", "name": "Abnormal left ventricular function", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-left-ventricular-function" }, { "slug": "abnormal-epiphysis-morphology", "name": "Abnormal shape of end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology" }, { "slug": "abnormal-vertebral-body-morphology", "name": "Abnormal vertebral body morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology" }, { "slug": "abnormal-pulmonary-interstitial-morphology", "name": "Abnormality in area between air sacs in lung", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-pulmonary-interstitial-morphology" }, { "slug": "abnormality-of-connective-tissue", "name": "Abnormality of connective tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-connective-tissue" }, { "slug": "abnormal-dental-morphology", "name": "Abnormality of dental shape", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/abnormal-dental-morphology" }, { "slug": "abnormality-of-the-cardiovascular-system", "name": "Abnormality of the cardiovascular system", "systems": [], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-cardiovascular-system" }, { "slug": "abnormal-eyebrow-morphology", "name": "Abnormality of the eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-eyebrow-morphology" }, { "slug": "abnormality-iris-morphology", "name": "Abnormality of the iris", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-iris-morphology" }, { "slug": "abnormal-sternum-morphology", "name": "Abnormality of the sternum", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-sternum-morphology" }, { "slug": "abnormal-femur-morphology", "name": "Abnormality of the thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-femur-morphology" }, { "slug": "abnormal-metaphysis-morphology", "name": "Abnormality of the wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology" }, { "slug": "protrusio-acetabuli", "name": "Abnormally indented hip sockets", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/protrusio-acetabuli" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absence-of-subcutaneous-fat", "name": "Absent fat below the skin", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absence-of-subcutaneous-fat" }, { "slug": "aplasia-hypoplasia-of-the-abdominal-wall-musculature", "name": "Absent/small abdominal wall muscles", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-abdominal-wall-musculature" }, { "slug": "aplasia-hypoplasia-of-the-skin", "name": "Absent/small skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-skin" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "aortic-regurgitation", "name": "Aortic regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aortic-regurgitation" }, { "slug": "bicuspid-aortic-valve", "name": "Aortic valve has two leaflets rather than three", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bicuspid-aortic-valve" }, { "slug": "apnea", "name": "Apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/apnea" }, { "slug": "ascending-aortic-dissection", "name": "Ascending aortic dissection", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ascending-aortic-dissection" }, { "slug": "asthma", "name": "Asthma", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/asthma" }, { "slug": "astigmatism", "name": "Astigmatism", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/astigmatism" }, { "slug": "autoimmune-antibody-positivity", "name": "Autoimmune antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/autoimmune-antibody-positivity" }, { "slug": "genu-recurvatum", "name": "Back knee", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/genu-recurvatum" }, { "slug": "melanocytic-nevus", "name": "Beauty mark", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/melanocytic-nevus" }, { "slug": "protuberant-abdomen", "name": "Belly sticks out", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/protuberant-abdomen" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/blindness" }, { "slug": "blue-sclerae", "name": "Blue outer white part of eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blue-sclerae" }, { "slug": "bowing-of-the-long-bones", "name": "Bowing of the long bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bowing-of-the-long-bones" }, { "slug": "dilatation-of-the-cerebral-artery", "name": "Brain aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery" }, { "slug": "broad-forehead", "name": "Broad forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/broad-forehead" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/brachycephaly" }, { "slug": "broad-palm", "name": "Broad palm", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/broad-palm" }, { "slug": "broad-ribs", "name": "Broad ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/broad-ribs" }, { "slug": "broad-skull", "name": "Broad skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/broad-skull" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "bulbous-nose", "name": "Bulbous nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bulbous-nose" }, { "slug": "aortic-aneurysm", "name": "Bulge in wall of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/aortic-aneurysm" }, { "slug": "aortic-root-aneurysm", "name": "Bulge in wall of root of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/aortic-root-aneurysm" }, { "slug": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "ascending-tubular-aorta-aneurysm", "name": "Bulging of wall of large artery located above heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ascending-tubular-aorta-aneurysm" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "carotid-artery-dilatation", "name": "Carotid artery dilatation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/carotid-artery-dilatation" }, { "slug": "chest-pain", "name": "Chest pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chest-pain" }, { "slug": "chiari-malformation", "name": "Chiari malformation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chiari-malformation" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "pneumothorax", "name": "Collapsed lung", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pneumothorax" }, { "slug": "communicating-hydrocephalus", "name": "Communicating hydrocephalus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/communicating-hydrocephalus" }, { "slug": "lens-luxation", "name": "Completely dislocated lens", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lens-luxation" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "cone-shaped-epiphysis", "name": "Cone-shaped end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/cone-shaped-epiphysis" }, { "slug": "constrictive-median-neuropathy", "name": "Constrictive median neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/constrictive-median-neuropathy" }, { "slug": "telecanthus", "name": "Corners of eye widely separated", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/telecanthus" }, { "slug": "hemoptysis", "name": "Coughing up blood", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemoptysis" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "crumpled-ear", "name": "Crumpled ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/crumpled-ear" }, { "slug": "cutis-marmorata", "name": "Cutis marmorata", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cutis-marmorata" }, { "slug": "decreased-body-weight", "name": "Decreased body weight", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-body-weight" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "shallow-orbits", "name": "Decreased depth of eye sockets", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-eye", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/shallow-orbits" }, { "slug": "decreased-muscle-mass", "name": "Decreased muscle mass", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/decreased-muscle-mass" }, { "slug": "decreased-nerve-conduction-velocity", "name": "Decreased nerve conduction velocity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-nerve-conduction-velocity" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "hypoplasia-of-the-maxilla", "name": "Decreased size of maxilla", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla" }, { "slug": "decreased-testicular-size", "name": "Decreased testicular size", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-testicular-size" }, { "slug": "deep-philtrum", "name": "Deep philtrum", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/deep-philtrum" }, { "slug": "deeply-set-eye", "name": "Deeply set eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/deeply-set-eye" }, { "slug": "depressed-glabella", "name": "Deficient area between the eyebrows", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/depressed-glabella" }, { "slug": "craniosynostosis", "name": "Deformity of the skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/craniosynostosis" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "dental-crowding", "name": "Dental crowding", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dental-crowding" }, { "slug": "hypovolemia", "name": "Depleted blood volume", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypovolemia" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "descending-aortic-dissection", "name": "Descending aortic dissection", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/descending-aortic-dissection" }, { "slug": "descending-thoracic-aorta-aneurysm", "name": "Descending thoracic aorta aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/descending-thoracic-aorta-aneurysm" }, { "slug": "ectopia-pupillae", "name": "Displaced pupil", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ectopia-pupillae" }, { "slug": "spondylolisthesis", "name": "Displacement of one backbone compared to another", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/spondylolisthesis" }, { "slug": "disproportionate-tall-stature", "name": "Disproportionate tall stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/disproportionate-tall-stature" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "keratoconjunctivitis-sicca", "name": "Dry eye syndrome", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/keratoconjunctivitis-sicca" }, { "slug": "dural-ectasia", "name": "Dural ectasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dural-ectasia" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "ectopia-lentis", "name": "Ectopia lentis", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ectopia-lentis" }, { "slug": "elbow-dislocation", "name": "Elbow dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elbow-dislocation" }, { "slug": "elbow-flexion-contracture", "name": "Elbow flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elbow-flexion-contracture" }, { "slug": "emphysema", "name": "Emphysema", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/emphysema" }, { "slug": "megalocornea", "name": "Enlarged cornea", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/megalocornea" }, { "slug": "cardiomegaly", "name": "Enlarged heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cardiomegaly" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "equinus-calcaneus", "name": "Equinus calcaneus", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/equinus-calcaneus" }, { "slug": "hypertrichosis", "name": "Excessive hair growth", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertrichosis" }, { "slug": "lumbar-hyperlordosis", "name": "Excessive inward curvature of lower spine", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/lumbar-hyperlordosis" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "fifth-metacarpal-with-ulnar-notch", "name": "Fifth metacarpal with ulnar notch", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fifth-metacarpal-with-ulnar-notch" }, { "slug": "hyperextensibility-of-the-finger-joints", "name": "Finger joint hyperextensibility", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperextensibility-of-the-finger-joints" }, { "slug": "subcutaneous-nodule", "name": "Firm lump under the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/subcutaneous-nodule" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "flexion-contracture-of-toe", "name": "Flexion contracture of toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/flexion-contracture-of-toe" }, { "slug": "tracheomalacia", "name": "Floppy windpipe", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tracheomalacia" }, { "slug": "metatarsus-adductus", "name": "Front half of foot turns inward", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/metatarsus-adductus" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "full-cheeks", "name": "Full cheeks", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/full-cheeks" }, { "slug": "thick-lower-lip-vermilion", "name": "Full lower lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion" }, { "slug": "pectus-excavatum", "name": "Funnel chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pectus-excavatum" }, { "slug": "generalized-lipodystrophy", "name": "Generalized lipodystrophy", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-lipodystrophy" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "hammertoe", "name": "Hammertoe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hammertoe" }, { "slug": "cutis-laxa", "name": "Hanging skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cutis-laxa" }, { "slug": "heart-murmur", "name": "Heart murmur", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/heart-murmur" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "high-narrow-palate", "name": "High, narrow palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-narrow-palate" }, { "slug": "hoarse-voice", "name": "Hoarse voice", "systems": [ "abnormality-of-the-voice" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hoarse-voice" }, { "slug": "atrioventricular-canal-defect", "name": "Hole in center of heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrioventricular-canal-defect" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "hyperextensible-skin", "name": "Hyperelastic skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperextensible-skin" }, { "slug": "hypertropia", "name": "Hypertropia", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypertropia" }, { "slug": "impaired-pain-sensation", "name": "Impaired pain sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-pain-sensation" }, { "slug": "lipodystrophy", "name": "Inability to make and keep healthy fat tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lipodystrophy" }, { "slug": "knee-flexion-contracture", "name": "Inability to straighten knee", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/knee-flexion-contracture" }, { "slug": "incisional-hernia", "name": "Incisional hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/incisional-hernia" }, { "slug": "increased-arm-span", "name": "Increased arm span", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-arm-span" }, { "slug": "pulmonary-arterial-hypertension", "name": "Increased blood pressure in blood vessels of lungs", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension" }, { "slug": "increased-axial-length-of-the-globe", "name": "Increased front to back length of eyeball", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/increased-axial-length-of-the-globe" }, { "slug": "elevated-pulmonary-artery-pressure", "name": "increased pulmonary artery pressure", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-pulmonary-artery-pressure" }, { "slug": "increased-size-of-nasopharyngeal-adenoids", "name": "Increased size of nasopharyngeal adenoids", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-size-of-nasopharyngeal-adenoids" }, { "slug": "inferior-oblique-muscle-overaction", "name": "Inferior oblique muscle overaction", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/inferior-oblique-muscle-overaction" }, { "slug": "inguinal-hernia", "name": "Inguinal hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inguinal-hernia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "adducted-thumb", "name": "Inward turned thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/adducted-thumb" }, { "slug": "esotropia", "name": "Inward turning cross eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/esotropia" }, { "slug": "iridodonesis", "name": "Iridodonesis", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/iridodonesis" }, { "slug": "ischemic-stroke", "name": "Ischemic stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ischemic-stroke" }, { "slug": "joint-contracture", "name": "Joint contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-contracture" }, { "slug": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "slug": "kidney-stone", "name": "Kidney stone", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kidney-stone" }, { "slug": "genu-valgum", "name": "Knock knees", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/genu-valgum" }, { "slug": "kyphoscoliosis", "name": "Kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kyphoscoliosis" }, { "slug": "laryngeal-stenosis", "name": "Laryngeal stenosis", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/laryngeal-stenosis" }, { "slug": "lateral-ventricular-asymmetry", "name": "Lateral ventricular asymmetry", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lateral-ventricular-asymmetry" }, { "slug": "amblyopia", "name": "Lazy eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/amblyopia" }, { "slug": "limitation-of-joint-mobility", "name": "Limitation of joint mobility", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limitation-of-joint-mobility" }, { "slug": "limited-elbow-extension", "name": "Limited elbow extension", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/limited-elbow-extension" }, { "slug": "limited-shoulder-movement", "name": "Limited shoulder movement", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/limited-shoulder-movement" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "long-eyelashes", "name": "Long eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/long-eyelashes" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/long-face" }, { "slug": "long-fingers", "name": "Long fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/long-fingers" }, { "slug": "long-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/long-philtrum" }, { "slug": "arachnodactyly", "name": "Long slender fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/arachnodactyly" }, { "slug": "long-toe", "name": "Long toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/long-toe" }, { "slug": "dolichocephaly", "name": "Long, narrow head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dolichocephaly" }, { "slug": "lipoatrophy", "name": "Loss of fat tissue in localized area", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lipoatrophy" }, { "slug": "hypoxemia", "name": "Low blood oxygen level", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoxemia" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/oligohydramnios" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "medial-rotation-of-the-medial-malleolus", "name": "Medial rotation of the medial malleolus", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/medial-rotation-of-the-medial-malleolus" }, { "slug": "microspherophakia", "name": "Microspherophakia", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microspherophakia" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "transient-ischemic-attack", "name": "Mini stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/transient-ischemic-attack" }, { "slug": "missing-ribs", "name": "Missing ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/missing-ribs" }, { "slug": "mitral-annular-calcification", "name": "Mitral annular calcification", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/mitral-annular-calcification" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "mitral-stenosis", "name": "Mitral stenosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mitral-stenosis" }, { "slug": "mitral-valve-prolapse", "name": "Mitral valve prolapse", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mitral-valve-prolapse" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "mucoid-extracellular-matrix-accumulation", "name": "Mucoid extracellular matrix accumulation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mucoid-extracellular-matrix-accumulation" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "abnormality-of-the-musculature", "name": "Muscular abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-musculature" }, { "slug": "narrow-chest", "name": "Narrow chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-chest" }, { "slug": "narrow-face", "name": "Narrow face", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/narrow-face" }, { "slug": "narrow-foot", "name": "Narrow foot", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-foot" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "narrow-nasal-ridge", "name": "Narrow nasal ridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-nasal-ridge" }, { "slug": "narrow-nose", "name": "Narrow nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-nose" }, { "slug": "narrow-palate", "name": "Narrow palate", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/narrow-palate" }, { "slug": "spinal-canal-stenosis", "name": "Narrow spinal canal", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/spinal-canal-stenosis" }, { "slug": "aortic-valve-stenosis", "name": "Narrowing of aortic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aortic-valve-stenosis" }, { "slug": "pulmonic-stenosis", "name": "Narrowing of pulmonic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonic-stenosis" }, { "slug": "tracheal-stenosis", "name": "Narrowing of windpipe", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tracheal-stenosis" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "neonatal-respiratory-distress", "name": "Neonatal respiratory distress", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/neonatal-respiratory-distress" }, { "slug": "type-ii-diabetes-mellitus", "name": "Noninsulin-dependent diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus" }, { "slug": "airway-obstruction", "name": "Obstructive lung disease", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/airway-obstruction" }, { "slug": "obstructive-sleep-apnea", "name": "Obstructive sleep apnea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/obstructive-sleep-apnea" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "exotropia", "name": "Outward facing eye ball", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/exotropia" }, { "slug": "ovoid-vertebral-bodies", "name": "Ovoid vertebral bodies", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ovoid-vertebral-bodies" }, { "slug": "paroxysmal-dyspnea", "name": "Paroxysmal dyspnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/paroxysmal-dyspnea" }, { "slug": "hyperpigmentation-of-the-skin", "name": "Patchy darkened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "peripheral-arterial-stenosis", "name": "Peripheral arterial stenosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-arterial-stenosis" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "camptodactyly-of-finger", "name": "Permanent flexion of the finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/camptodactyly-of-finger" }, { "slug": "camptodactyly", "name": "Permanent flexion of the finger or toe", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/camptodactyly" }, { "slug": "pes-valgus", "name": "Pes valgus", "systems": [ "abnormality-of-limbs" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pes-valgus" }, { "slug": "phalangeal-cone-shaped-epiphyses", "name": "Phalangeal cone-shaped epiphyses", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/phalangeal-cone-shaped-epiphyses" }, { "slug": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "coronary-artery-atherosclerosis", "name": "Plaque build-up in arteries supplying blood to heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coronary-artery-atherosclerosis" }, { "slug": "progeroid-facial-appearance", "name": "Premature aged appearance", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/progeroid-facial-appearance" }, { "slug": "premature-birth", "name": "Premature birth", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/premature-birth" }, { "slug": "premature-osteoarthritis", "name": "Premature osteoarthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/premature-osteoarthritis" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "prolonged-qtc-interval", "name": "Prolonged QTc interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-qtc-interval" }, { "slug": "protruding-ear", "name": "Prominent ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/protruding-ear" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "prominent-nasal-bridge", "name": "Prominent nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-nasal-bridge" }, { "slug": "proportionate-short-stature", "name": "Proportionate short stature", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/proportionate-short-stature" }, { "slug": "pulmonary-artery-dilatation", "name": "Pulmonary artery dilatation", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/pulmonary-artery-dilatation" }, { "slug": "retrognathia", "name": "Receding chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/retrognathia" }, { "slug": "recurrent-ear-infections", "name": "Recurrent ear infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-ear-infections" }, { "slug": "reduced-subcutaneous-adipose-tissue", "name": "Reduced fat tissue below the skin", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/reduced-subcutaneous-adipose-tissue" }, { "slug": "reduced-upper-to-lower-segment-ratio", "name": "Reduced upper to lower segment ratio", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-upper-to-lower-segment-ratio" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "retinal-detachment", "name": "Retinal detachment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-detachment" }, { "slug": "round-face", "name": "Round face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/round-face" }, { "slug": "scaphocephaly", "name": "Scaphocephaly", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/scaphocephaly" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "high-myopia", "name": "Severe near sightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-myopia" }, { "slug": "severe-short-stature", "name": "Severe short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-short-stature" }, { "slug": "shallow-anterior-chamber", "name": "Shallow anterior chamber", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/shallow-anterior-chamber" }, { "slug": "short-fetal-femur-length", "name": "Short fetal thigh bone length", "systems": [ "abnormality-of-prenatal-development-or-birth", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-fetal-femur-length" }, { "slug": "short-finger", "name": "Short finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-finger" }, { "slug": "short-phalanx-of-finger", "name": "Short finger bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-phalanx-of-finger" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "short-foot", "name": "Short foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-foot" }, { "slug": "short-long-bone", "name": "Short long bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-long-bone" }, { "slug": "short-metatarsal", "name": "Short long bone of foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-metatarsal" }, { "slug": "short-nose", "name": "Short nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-nose" }, { "slug": "short-palm", "name": "Short palm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-palm" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "short-thumb", "name": "Short thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-thumb" }, { "slug": "short-metacarpal", "name": "Shortened long bone of hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-metacarpal" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "small-hand", "name": "Small hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/small-hand" }, { "slug": "smooth-philtrum", "name": "Smooth philtrum", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/smooth-philtrum" }, { "slug": "laryngomalacia", "name": "Softening of voice box tissue", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/laryngomalacia" }, { "slug": "spontaneous-cerebrospinal-fluid-leak", "name": "Spontaneous cerebrospinal fluid leak", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/spontaneous-cerebrospinal-fluid-leak" }, { "slug": "restrictive-ventilatory-defect", "name": "Stiff lung or chest wall causing decreased lung volume", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect" }, { "slug": "stiff-skin", "name": "Stiff skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/stiff-skin" }, { "slug": "striae-distensae", "name": "Stretch marks", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/striae-distensae" }, { "slug": "stroke", "name": "Stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stroke" }, { "slug": "subarachnoid-hemorrhage", "name": "Subarachnoid hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage" }, { "slug": "talipes", "name": "Talipes", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/talipes" }, { "slug": "talipes-calcaneovarus", "name": "Talipes calcaneovarus", "systems": [ "abnormality-of-limbs" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/talipes-calcaneovarus" }, { "slug": "tall-stature", "name": "Tall stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tall-stature" }, { "slug": "aortic-dissection", "name": "Tear in inner wall of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aortic-dissection" }, { "slug": "thickened-helices", "name": "Thickened helices", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thickened-helices" }, { "slug": "thickened-skin", "name": "Thickened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thickened-skin" }, { "slug": "thin-bony-cortex", "name": "Thin bony cortex", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/thin-bony-cortex" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "slug": "thoracic-lordosis", "name": "Thoracic lordosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thoracic-lordosis" }, { "slug": "lack-of-skin-elasticity", "name": "Tight skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lack-of-skin-elasticity" }, { "slug": "tip-toe-gait", "name": "Toe walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tip-toe-gait" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "triangular-face", "name": "Triangular face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/triangular-face" }, { "slug": "tricuspid-regurgitation", "name": "Tricuspid regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/tricuspid-regurgitation" }, { "slug": "tricuspid-stenosis", "name": "Tricuspid stenosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tricuspid-stenosis" }, { "slug": "tricuspid-valve-prolapse", "name": "Tricuspid valve prolapse", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/tricuspid-valve-prolapse" }, { "slug": "umbilical-hernia", "name": "Umbilical hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/umbilical-hernia" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "hypoplasia-of-the-iris", "name": "Underdeveloped iris", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-iris" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "valvular-pulmonary-stenosis", "name": "Valvular pulmonary stenosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/valvular-pulmonary-stenosis" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-loss" }, { "slug": "broad-phalanges-of-the-hand", "name": "Wide hand bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/broad-phalanges-of-the-hand" }, { "slug": "broad-metatarsal", "name": "Wide long bone of foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/broad-metatarsal" }, { "slug": "broad-metacarpals", "name": "Wide long 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"Zygomatic flattening", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/malar-flattening" } ], "related": [ { "slug": "acta2", "symbol": "ACTA2", "name": "actin alpha 2, smooth muscle", "shared": 1, "url": "https://dantelabs.com/el/genes/acta2" }, { "slug": "foxe3", "symbol": "FOXE3", "name": "forkhead box E3", "shared": 1, "url": "https://dantelabs.com/el/genes/foxe3" }, { "slug": "lox", "symbol": "LOX", "name": "lysyl oxidase", "shared": 1, "url": "https://dantelabs.com/el/genes/lox" }, { "slug": "mfap5", "symbol": "MFAP5", "name": "microfibril associated protein 5", "shared": 1, "url": "https://dantelabs.com/el/genes/mfap5" }, { "slug": "myh11", "symbol": "MYH11", "name": "myosin heavy chain 11", "shared": 1, "url": "https://dantelabs.com/el/genes/myh11" }, { "slug": "mylk", "symbol": "MYLK", "name": "myosin light chain kinase", "shared": 1, "url": 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