{ "url": "https://dantelabs.com/es/genes/lztr1", "gene": { "slug": "lztr1", "symbol": "LZTR1", "name": "leucine zipper like post translational regulator 1", "hgnc": "HGNC:6742", "summary": null, "location": "22q11.21", "locusType": "gene with protein product", "aliases": [ "LZTR-1", "BTBD29" ], "previousSymbols": [], "ensemblId": "ENSG00000099949", "entrezId": 8216, "omim": [ "600574" ], "uniprot": [ "Q8N653" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "22", "start": 20982297, "end": 20999032, "strand": "+", "ensemblTranscript": "ENST00000646124.2", "refseqTranscript": "NM_006767.4", "ensemblProtein": "ENSP00000496779.1", "refseqProtein": "NP_006758.2", "exons": [ { "start": 20982297, "end": 20982571 }, { "start": 20983027, "end": 20983089 }, { "start": 20985841, "end": 20985897 }, { "start": 20987504, "end": 20987583 }, { "start": 20988010, "end": 20988118 }, { "start": 20988789, "end": 20988872 }, { "start": 20989625, "end": 20989682 }, { "start": 20990386, "end": 20990525 }, { "start": 20991628, "end": 20991829 }, { "start": 20992214, "end": 20992369 }, { "start": 20992794, "end": 20992904 }, { "start": 20993662, "end": 20993754 }, { "start": 20993924, "end": 20994019 }, { "start": 20994104, "end": 20994269 }, { "start": 20994558, "end": 20994727 }, { "start": 20994870, "end": 20995026 }, { "start": 20995746, "end": 20995872 }, { "start": 20995963, "end": 20996112 }, { "start": 20996696, "end": 20996801 }, { "start": 20996886, "end": 20996966 }, { "start": 20997232, "end": 20999032 } ], "cds": { "start": 20982372, "end": 20997348 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "22", "start": 21333751, "end": 21353327, "strand": "+" }, "neighbourhood": { "release": "116", "start": 20490665, "end": 21490664, "genes": [ { "symbol": "KLHL22", "ensemblId": "ENSG00000099910", "biotype": "protein_coding", "start": 20441519, "end": 20496893, "strand": "-", "slug": "klhl22" }, { "symbol": "MED15", "ensemblId": "ENSG00000099917", "biotype": "protein_coding", "start": 20495913, "end": 20587632, "strand": "+", "slug": "med15" }, { "symbol": "PI4KA", "ensemblId": "ENSG00000241973", "biotype": "protein_coding", "start": 20707691, "end": 20859417, "strand": "-", "slug": "pi4ka" }, { "symbol": "SERPIND1", "ensemblId": "ENSG00000099937", "biotype": "protein_coding", "start": 20774092, "end": 20787721, "strand": "+", "slug": "serpind1" }, { "symbol": "SNAP29", "ensemblId": "ENSG00000099940", "biotype": "protein_coding", "start": 20858537, "end": 20891218, "strand": "+", "slug": "snap29" }, { "symbol": "CRKL", "ensemblId": "ENSG00000099942", "biotype": "protein_coding", "start": 20917353, "end": 20953747, "strand": "+", "slug": "crkl" }, { "symbol": "AIFM3", "ensemblId": "ENSG00000183773", "biotype": "protein_coding", "start": 20965108, "end": 20981364, "strand": "+", "slug": "aifm3" }, { "symbol": "THAP7", "ensemblId": "ENSG00000184436", "biotype": "protein_coding", "start": 20999104, "end": 21002196, "strand": "-", "slug": "thap7" }, { "symbol": "LRRC74BNL", "ensemblId": "ENSG00000284130", "biotype": "protein_coding", "start": 21007199, "end": 21014301, "strand": "-", "slug": "lrrc74bnl" }, { "symbol": "", "ensemblId": "ENSG00000291240", "biotype": "protein_coding", "start": 21008247, "end": 21032572, "strand": "-" }, { "symbol": "P2RX6", "ensemblId": "ENSG00000099957", "biotype": "protein_coding", "start": 21009808, "end": 21028013, "strand": "+", "slug": "p2rx6" }, { "symbol": "SLC7A4", "ensemblId": "ENSG00000099960", "biotype": "protein_coding", "start": 21028715, "end": 21032933, "strand": "-", "slug": "slc7a4" }, { "symbol": "LRRC74B", "ensemblId": "ENSG00000187905", "biotype": "protein_coding", "start": 21045941, "end": 21064168, "strand": "+", "slug": "lrrc74b" }, { "symbol": "FAM246A", "ensemblId": "ENSG00000286102", "biotype": "protein_coding", "start": 21360601, "end": 21361299, "strand": "-", "slug": "fam246a" }, { "symbol": "RIMBP3B", "ensemblId": "ENSG00000274600", "biotype": "protein_coding", "start": 21383751, "end": 21389478, "strand": "+", "slug": "rimbp3b" }, { "symbol": "HIC2", "ensemblId": "ENSG00000169635", "biotype": "protein_coding", "start": 21416504, "end": 21451463, "strand": "+", "slug": "hic2" }, { "symbol": "TMEM191C", "ensemblId": "ENSG00000206140", "biotype": "protein_coding", "start": 21466423, "end": 21471269, "strand": "+", "slug": "tmem191c" } ], "truncated": false }, "reports": [ { "slug": "neurofibromatosis", "name": "Neurofibromatosis", "diseases": [ { "mondoId": "MONDO:0021061", "name": "Neurofibromatosis", "genes": 4, "inheritance": "autosomal-dominant", "description": "Un síndrome neoplásico hereditario en el que se desarrollan tumores en el sistema nervioso. Por lo general, se reconocen 3 tipos principales, aunque existen otras formas de etiología incierta.", "management": "Correlación genotipo-fenotipo, terapia con inhibidores de MEK para neurofibromas plexiformes inoperables, vigilancia tumoral, estudio en cascada", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/es/conditions/neurofibromatosis" }, { "slug": "noonan-syndrome", "name": "Síndrome de Noonan", "diseases": [ { "mondoId": "MONDO:0018997", "name": "Síndrome de Noonan", "genes": 16, "inheritance": "autosomal-dominant", "description": "El síndrome de Noonan (SN) se caracteriza por baja estatura, rasgos faciales característicos y cardiopatías congénitas.", "management": "Vigilancia cardiológica, apoyo al desarrollo, tratamiento con hormona del crecimiento, asesoramiento genético, ensayos clínicos con inhibidores de MEK", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": true, "broad": false }, { "mondoId": "MONDO:0020297", "name": "Síndrome de Noonan y síndromes relacionados con Noonan", "genes": 21, "inheritance": null, "description": "Un grupo de trastornos de la vía RAS, entre ellos los síndromes de Noonan, Costello, cardiofaciocutáneo y de Legius, con malformaciones cardíacas variables, talla baja y rasgos faciales característicos.", "management": "Conocerlo ayuda a evaluar el corazón, el crecimiento y el desarrollo.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/es/conditions/noonan-syndrome" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Miocardiopatía hipertrófica", "diseases": [ { "mondoId": "MONDO:0005045", "name": "Miocardiopatía hipertrófica", "genes": 62, "inheritance": "autosomal-dominant", "description": "Enfermedad en la que el miocardio se hipertrofia sin una causa evidente. La hipertrofia suele ser asimétrica y puede asociarse a la obstrucción del tracto de salida ventricular.", "management": "Betabloqueantes, antagonistas del calcio no dihidropiridínicos, limitación de la actividad física, asesoramiento genético", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/es/conditions/hypertrophic-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormal-coronary-artery-origin", "name": "Abnormal coronary artery origin", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-coronary-artery-origin" }, { "slug": "abnormal-ekg", "name": "Abnormal EKG", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-ekg" }, { "slug": "abnormal-dermatoglyphics", "name": "Abnormal fingerprints", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-dermatoglyphics" }, { "slug": "abnormal-hair-quantity", "name": "Abnormal hair quantity", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-hair-quantity" }, { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "abnormal-platelet-function", "name": "Abnormal platelet function", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-platelet-function" }, { "slug": "abnormal-pulmonary-valve-morphology", "name": "Abnormal pulmonary valve morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pulmonary-valve-morphology" }, { "slug": "abnormal-speech-pattern", "name": "Abnormal speech pattern", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-speech-pattern" }, { "slug": "neoplasm", "name": "Abnormal tissue mass", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm" }, { "slug": "abnormality-of-coagulation", "name": "Abnormality of coagulation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-coagulation" }, { "slug": "abnormality-of-the-lymphatic-system", "name": "Abnormality of the lymphatic system", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-lymphatic-system" }, { "slug": "abnormality-of-the-genital-system", "name": "Abnormality of the reproductive system", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-genital-system" }, { "slug": "abnormality-of-the-spleen", "name": "Abnormality of the spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-spleen" }, { "slug": "abnormal-sternum-morphology", "name": "Abnormality of the sternum", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/abnormal-sternum-morphology" }, { "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": "very-frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-abdominal-wall-musculature" }, { "slug": "acute-lymphoblastic-leukemia", "name": "Acute lymphoblastic leukemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/acute-lymphoblastic-leukemia" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "anterior-polar-cataract", "name": "Anterior polar cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anterior-polar-cataract" }, { "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": "aplasia-of-the-semicircular-canal", "name": "Aplasia of the semicircular canal", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-of-the-semicircular-canal" }, { "slug": "arthrogryposis-multiplex-congenita", "name": "Arthrogryposis multiplex congenita", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita" }, { "slug": "melanocytic-nevus", "name": "Beauty mark", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/melanocytic-nevus" }, { "slug": "bilateral-vestibular-schwannoma", "name": "Bilateral vestibular schwannoma", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-nervous-system", "neoplasm" ], "url": "https://dantelabs.com/traits/bilateral-vestibular-schwannoma" }, { "slug": "cafe-au-lait-spot", "name": "Birthmark", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cafe-au-lait-spot" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "leukemia", "name": "Blood cancer", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/leukemia" }, { "slug": "blue-irides", "name": "Blue eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blue-irides" }, { "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": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "keratosis-pilaris", "name": "Chicken skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/keratosis-pilaris" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "coarse-hair", "name": "Coarse hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coarse-hair" }, { "slug": "telecanthus", "name": "Corners of eye widely separated", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/telecanthus" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "curly-hair", "name": "Curly hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/curly-hair" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "cystic-hygroma", "name": "Cystic hygroma", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cystic-hygroma" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "delayed-menarche", "name": "Delayed start of first period", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system", "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-menarche" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dilatation-of-the-renal-pelvis", "name": "Dilatation of the renal pelvis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilatation-of-the-renal-pelvis" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "distal-arthrogryposis", "name": "Distal arthrogryposis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/distal-arthrogryposis" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-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": "very-frequent", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "palmoplantar-cutis-laxa", "name": "Excessive wrinkled skin of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palmoplantar-cutis-laxa" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "lipoma", "name": "Fatty lump", "systems": [ "abnormality-of-the-musculoskeletal-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lipoma" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "fetal-pleural-effusion", "name": "Fetal pleural effusion", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fetal-pleural-effusion" }, { "slug": "underdeveloped-supraorbital-ridges", "name": "Flattened bony protrusion above eyes", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/underdeveloped-supraorbital-ridges" }, { "slug": "pleural-effusion", "name": "Fluid around lungs", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pleural-effusion" }, { "slug": "freckling", "name": "Freckling", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/freckling" }, { "slug": "thick-lower-lip-vermilion", "name": "Full lower lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion" }, { "slug": "pectus-excavatum", "name": "Funnel chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pectus-excavatum" }, { "slug": "radioulnar-synostosis", "name": "Fused forearm bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/radioulnar-synostosis" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-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": "very-frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "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": "hyperextensible-skin", "name": "Hyperelastic skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperextensible-skin" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "hypermelanotic-macule", "name": "Hyperpigmented skin patches", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypermelanotic-macule" }, { "slug": "hypogonadotropic-hypogonadism", "name": "Hypogonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism" }, { "slug": "increased-nuchal-translucency", "name": "Increased nuchal translucency", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis", "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-nuchal-translucency" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "juvenile-myelomonocytic-leukemia", "name": "Juvenile myelomonocytic leukemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/juvenile-myelomonocytic-leukemia" }, { "slug": "left-ventricular-hypertrophy", "name": "Left ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy" }, { "slug": "constriction-of-peripheral-visual-field", "name": "Limited peripheral vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field" }, { "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-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-philtrum" }, { "slug": "low-posterior-hairline", "name": "Low hairline at back of neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-posterior-hairline" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "lumbosacral-hemangioma", "name": "Lumbosacral hemangioma", "systems": [ "abnormality-of-the-cardiovascular-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lumbosacral-hemangioma" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "mitral-stenosis", "name": "Mitral stenosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "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": "nevus", "name": "Mole", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nevus" }, { "slug": "multiple-cafe-au-lait-spots", "name": "Multiple birthmarks", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/multiple-cafe-au-lait-spots" }, { "slug": "fasciculations", "name": "Muscle twitch", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/fasciculations" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "narrow-forehead", "name": "Narrow forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-forehead" }, { "slug": "coarctation-of-aorta", "name": "Narrowing of aorta", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coarctation-of-aorta" }, { "slug": "pulmonary-artery-stenosis", "name": "Narrowing of lung artery", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pulmonary-artery-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": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "neoplasm-of-the-anterior-pituitary", "name": "Neoplasm of the anterior pituitary", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/neoplasm-of-the-anterior-pituitary" }, { "slug": "neurodevelopmental-delay", "name": "Neurodevelopmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neurodevelopmental-delay" }, { "slug": "meningioma", "name": "Noncancerous growth of membranes covering brain", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/meningioma" }, { "slug": "nonimmune-hydrops-fetalis", "name": "Nonimmune hydrops fetalis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis" }, { "slug": "hypoesthesia", "name": "Numbness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypoesthesia" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "cubitus-valgus", "name": "Outward turned elbows", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cubitus-valgus" }, { "slug": "overfolded-helix", "name": "Overfolded ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/overfolded-helix" }, { "slug": "pain", "name": "Pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pain" }, { "slug": "hyperpigmentation-of-the-skin", "name": "Patchy darkened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "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": "patent-foramen-ovale", "name": "Patent foramen ovale", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/patent-foramen-ovale" }, { "slug": "peripheral-schwannoma", "name": "Peripheral schwannoma", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-schwannoma" }, { "slug": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "paresthesia", "name": "Pins and needles feeling", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/paresthesia" }, { "slug": "pointed-chin", "name": "Pointed chin", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pointed-chin" }, { "slug": "prolonged-partial-thromboplastin-time", "name": "Prolonged partial thromboplastin time", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-partial-thromboplastin-time" }, { "slug": "prominent-corneal-nerve-fibers", "name": "Prominent corneal nerve fibers", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-corneal-nerve-fibers" }, { "slug": "prominent-fingertip-pads", "name": "Prominent fingertip pads", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-fingertip-pads" }, { "slug": "reduced-factor-xi-activity", "name": "Reduced factor XI activity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-factor-xi-activity" }, { "slug": "redundant-neck-skin", "name": "Redundant neck skin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/redundant-neck-skin" }, { "slug": "relative-macrocephaly", "name": "Relatively large head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/relative-macrocephaly" }, { "slug": "tinnitus", "name": "Ringing in ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tinnitus" }, { "slug": "schwannoma", "name": "Schwannoma", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/schwannoma" }, { "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": "shield-chest", "name": "Shield chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/shield-chest" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "sparse-eyebrow", "name": "Sparse eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sparse-eyebrow" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "slug": "spinal-cord-tumor", "name": "Spinal cord tumor", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spinal-cord-tumor" }, { "slug": "lymphedema", "name": "Swelling caused by excess lymph fluid under skin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphedema" }, { "slug": "thickened-helices", "name": "Thickened helices", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thickened-helices" }, { "slug": "thickened-nuchal-skin-fold", "name": "Thickened skin folds of neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-prenatal-development-or-birth" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thickened-nuchal-skin-fold" }, { "slug": "triangular-face", "name": "Triangular face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/triangular-face" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "uterine-leiomyoma", "name": "Uterine leiomyoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/uterine-leiomyoma" }, { "slug": "weak-voice", "name": "Weak voice", "systems": [ "abnormality-of-the-voice" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/weak-voice" }, { "slug": "webbed-neck", "name": "Webbed neck", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/webbed-neck" }, { "slug": "wide-mouth", "name": "Wide mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-mouth" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "enlarged-thorax", "name": "Wide rib cage", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/enlarged-thorax" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "wide-intermamillary-distance", "name": "Wide-spaced nipples", "systems": [ "abnormality-of-the-breast" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/wide-intermamillary-distance" } ], "related": [ { "slug": "braf", "symbol": "BRAF", "name": "B-Raf proto-oncogene, serine/threonine kinase", "shared": 3, "url": "https://dantelabs.com/es/genes/braf" }, { "slug": "erf", "symbol": "ERF", "name": "ETS2 repressor factor", "shared": 3, "url": "https://dantelabs.com/es/genes/erf" }, { "slug": "kras", "symbol": "KRAS", "name": "KRas proto-oncogene, GTPase", "shared": 3, "url": "https://dantelabs.com/es/genes/kras" }, { "slug": "mapk1", "symbol": "MAPK1", "name": "mitogen-activated protein kinase 1", "shared": 3, "url": "https://dantelabs.com/es/genes/mapk1" }, { "slug": "mras", "symbol": "MRAS", "name": "muscle RAS oncogene homolog", "shared": 3, "url": "https://dantelabs.com/es/genes/mras" }, { "slug": "nras", "symbol": "NRAS", "name": "NRAS proto-oncogene, GTPase", "shared": 3, "url": "https://dantelabs.com/es/genes/nras" }, { "slug": "ppp1cb", "symbol": "PPP1CB", "name": "protein phosphatase 1 catalytic subunit beta", "shared": 3, "url": "https://dantelabs.com/es/genes/ppp1cb" }, { "slug": "ptpn11", "symbol": "PTPN11", "name": "protein tyrosine phosphatase non-receptor type 11", "shared": 3, "url": "https://dantelabs.com/es/genes/ptpn11" }, { "slug": "raf1", "symbol": "RAF1", "name": "Raf-1 proto-oncogene, serine/threonine kinase", "shared": 3, "url": "https://dantelabs.com/es/genes/raf1" }, { "slug": "rit1", "symbol": "RIT1", "name": "Ras like without CAAX 1", "shared": 3, "url": "https://dantelabs.com/es/genes/rit1" }, { "slug": "rras2", "symbol": "RRAS2", "name": "RAS related 2", "shared": 3, "url": "https://dantelabs.com/es/genes/rras2" }, { "slug": "shoc2", "symbol": "SHOC2", "name": "SHOC2 leucine rich repeat scaffold protein", "shared": 3, "url": "https://dantelabs.com/es/genes/shoc2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }