{ "url": "https://dantelabs.com/lt/genes/ubr1", "gene": { "slug": "ubr1", "symbol": "UBR1", "name": "ubiquitin protein ligase E3 component n-recognin 1", "hgnc": "HGNC:16808", "summary": null, "location": "15q15.2", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000159459", "entrezId": 197131, "omim": [ "605981" ], "uniprot": [ "Q8IWV7" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 42942897, "end": 43106038, "strand": "-", "ensemblTranscript": "ENST00000290650.9", "refseqTranscript": "NM_174916.3", "ensemblProtein": "ENSP00000290650.4", "refseqProtein": "NP_777576.1", "exons": [ { "start": 42942897, "end": 42945470 }, { "start": 42950262, "end": 42950363 }, { "start": 42952278, "end": 42952448 }, { "start": 42958013, "end": 42958090 }, { "start": 42960645, "end": 42960701 }, { "start": 42963935, "end": 42964043 }, { "start": 42966153, "end": 42966286 }, { "start": 42970520, "end": 42970607 }, { "start": 42976717, "end": 42976867 }, { "start": 42977880, "end": 42977947 }, { "start": 42983897, "end": 42983993 }, { "start": 42984887, "end": 42984942 }, { "start": 42988819, "end": 42988967 }, { "start": 42990030, "end": 42990120 }, { "start": 42998168, "end": 42998265 }, { "start": 43002555, "end": 43002704 }, { "start": 43003837, "end": 43003930 }, { "start": 43007079, "end": 43007284 }, { "start": 43015688, "end": 43015869 }, { "start": 43017095, "end": 43017181 }, { "start": 43021275, "end": 43021375 }, { "start": 43022702, "end": 43022801 }, { "start": 43024829, "end": 43024983 }, { "start": 43025381, "end": 43025429 }, { "start": 43026561, "end": 43026663 }, { "start": 43027776, "end": 43027828 }, { "start": 43029944, "end": 43030068 }, { "start": 43032568, "end": 43032631 }, { "start": 43036178, "end": 43036279 }, { "start": 43036528, "end": 43036593 }, { "start": 43037773, "end": 43037883 }, { "start": 43038171, "end": 43038232 }, { "start": 43043215, "end": 43043395 }, { "start": 43047161, "end": 43047289 }, { "start": 43048392, "end": 43048491 }, { "start": 43054742, "end": 43054899 }, { "start": 43056344, "end": 43056442 }, { "start": 43058341, "end": 43058429 }, { "start": 43059085, "end": 43059192 }, { "start": 43059702, "end": 43059825 }, { "start": 43060052, "end": 43060114 }, { "start": 43067898, "end": 43068036 }, { "start": 43070795, "end": 43070925 }, { "start": 43074979, "end": 43075089 }, { "start": 43082638, "end": 43082716 }, { "start": 43085984, "end": 43086240 }, { "start": 43105942, "end": 43106038 } ], "cds": { "start": 42945329, "end": 43106022 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "15", "start": 43235095, "end": 43398311, "strand": "-" }, "neighbourhood": { "release": "116", "start": 42524468, "end": 43524467, "genes": [ { "symbol": "SNAP23", "ensemblId": "ENSG00000092531", "biotype": "protein_coding", "start": 42491233, "end": 42545358, "strand": "+", "slug": "snap23" }, { "symbol": "", "ensemblId": "ENSG00000285942", "biotype": "protein_coding", "start": 42497395, "end": 42548786, "strand": "-" }, { "symbol": "LRRC57", "ensemblId": "ENSG00000180979", "biotype": "protein_coding", "start": 42534627, "end": 42548802, "strand": "-", "slug": "lrrc57" }, { "symbol": "HAUS2", "ensemblId": "ENSG00000137814", "biotype": "protein_coding", "start": 42548828, "end": 42572263, "strand": "+", "slug": "haus2" }, { "symbol": "STARD9", "ensemblId": "ENSG00000159433", "biotype": "protein_coding", "start": 42575574, "end": 42720998, "strand": "+", "slug": "stard9" }, { "symbol": "CDAN1", "ensemblId": "ENSG00000140326", "biotype": "protein_coding", "start": 42723544, "end": 42737156, "strand": "-", "slug": "cdan1" }, { "symbol": "TTBK2", "ensemblId": "ENSG00000128881", "biotype": "protein_coding", "start": 42738730, "end": 42920850, "strand": "-", "slug": "ttbk2" }, { "symbol": "TMEM62", "ensemblId": "ENSG00000137842", "biotype": "protein_coding", "start": 43123279, "end": 43185144, "strand": "+", "slug": "tmem62" }, { "symbol": "", "ensemblId": "ENSG00000285117", "biotype": "protein_coding", "start": 43179715, "end": 43206481, "strand": "-" }, { "symbol": "CCNDBP1", "ensemblId": "ENSG00000166946", "biotype": "protein_coding", "start": 43185118, "end": 43197177, "strand": "+", "slug": "ccndbp1" }, { "symbol": "EPB42", "ensemblId": "ENSG00000166947", "biotype": "protein_coding", "start": 43191351, "end": 43221053, "strand": "-", "slug": "epb42" }, { "symbol": "TGM5", "ensemblId": "ENSG00000104055", "biotype": "protein_coding", "start": 43232590, "end": 43266933, "strand": "-", "slug": "tgm5" }, { "symbol": "TGM7", "ensemblId": "ENSG00000159495", "biotype": "protein_coding", "start": 43276271, "end": 43302255, "strand": "-", "slug": "tgm7" }, { "symbol": "LCMT2", "ensemblId": "ENSG00000168806", "biotype": "protein_coding", "start": 43323649, "end": 43330582, "strand": "-", "slug": "lcmt2" }, { "symbol": "MAPDA", "ensemblId": "ENSG00000168803", "biotype": "protein_coding", "start": 43329654, "end": 43355418, "strand": "+", "slug": "mapda" }, { "symbol": "ZSCAN29", "ensemblId": "ENSG00000140265", "biotype": "protein_coding", "start": 43357920, "end": 43371058, "strand": "-", "slug": "zscan29" }, { "symbol": "TUBGCP4", "ensemblId": "ENSG00000137822", "biotype": "protein_coding", "start": 43369221, "end": 43409771, "strand": "+", "slug": "tubgcp4" }, { "symbol": "TP53BP1", "ensemblId": "ENSG00000067369", "biotype": "protein_coding", "start": 43403061, "end": 43510728, "strand": "-", "slug": "tp53bp1" }, { "symbol": "MAP1A", "ensemblId": "ENSG00000166963", "biotype": "protein_coding", "start": 43510946, "end": 43531620, "strand": "+", "slug": "map1a" } ], "truncated": false }, "reports": [ { "slug": "johanson-blizzard-syndrome", "name": "Johanson-Blizzard sindromas", "diseases": [ { "mondoId": "MONDO:0009479", "name": "Johanson-Blizzard sindromas", "genes": 1, "inheritance": "autosomal-recessive", "description": "Recesyvinis sutrikimas, kurį sukelia UBR1 geno pokyčiai. Jam būdingas įgimtas sensorineurinis klausos sutrikimas, egzokrininis kasos nepakankamumas, nosies sparnelių neišsivystymas ir kiti požymiai.", "management": "Žinojimas apie šį sutrikimą leidžia anksti pradėti kasos fermentų pakaitinį gydymą ir klausos korekciją.", "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/johanson-blizzard-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiac-septum-morphology", "name": "Abnormal cardiac septum morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cardiac-septum-morphology" }, { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "rectovaginal-fistula", "name": "Abnormal connection between rectum and vagina", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/rectovaginal-fistula" }, { "slug": "abnormality-of-the-dentition", "name": "Abnormal dentition", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-dentition" }, { "slug": "abnormal-hair-pattern", "name": "Abnormal hair pattern", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-hair-pattern" }, { "slug": "abnormal-vagina-morphology", "name": "Abnormal vagina morphology", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-vagina-morphology" }, { "slug": "lacrimation-abnormality", "name": "Abnormality of tear production", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lacrimation-abnormality" }, { "slug": "abnormality-of-the-female-genitalia", "name": "Abnormality of the female genitalia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-female-genitalia" }, { "slug": "abnormal-nail-morphology", "name": "Abnormality of the nail", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/abnormal-nail-morphology" }, { "slug": "abnormal-nostril-morphology", "name": "Abnormality of the nostrils", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-nostril-morphology" }, { "slug": "abnormality-of-the-pancreas", "name": "Abnormality of the pancreas", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-pancreas" }, { "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": "agenesis-of-permanent-teeth", "name": "Absence of adult teeth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/agenesis-of-permanent-teeth" }, { "slug": "anal-atresia", "name": "Absent anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anal-atresia" }, { "slug": "absent-lacrimal-punctum", "name": "Absent lacrimal punctum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-lacrimal-punctum" }, { "slug": "ascites", "name": "Accumulation of fluid in the abdomen", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ascites" }, { "slug": "situs-inversus-totalis", "name": "All organs on wrong side of body", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/situs-inversus-totalis" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "anasarca", "name": "Anasarca", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/anasarca" }, { "slug": "vascular-dilatation", "name": "Aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/vascular-dilatation" }, { "slug": "anteriorly-placed-anus", "name": "Anteriorly placed anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anteriorly-placed-anus" }, { "slug": "convex-nasal-ridge", "name": "Beaked nose", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/convex-nasal-ridge" }, { "slug": "cafe-au-lait-spot", "name": "Birthmark", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cafe-au-lait-spot" }, { "slug": "colonic-diverticula", "name": "Colonic diverticula", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/colonic-diverticula" }, { "slug": "conjugated-hyperbilirubinemia", "name": "Conjugated hyperbilirubinemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/conjugated-hyperbilirubinemia" }, { "slug": "calvarial-skull-defect", "name": "Cranial defect", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/calvarial-skull-defect" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "hypoproteinemia", "name": "Decreased protein levels in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoproteinemia" }, { "slug": "microdontia", "name": "Decreased size of tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microdontia" }, { "slug": "microdontia-of-primary-teeth", "name": "Decreased width of baby teeth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/microdontia-of-primary-teeth" }, { "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-eruption-of-teeth", "name": "Delayed eruption of teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "septate-vagina", "name": "Double vagina", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/septate-vagina" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "downturned-corners-of-mouth", "name": "Downturned corners of mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/downturned-corners-of-mouth" }, { "slug": "elevated-circulating-alanine-aminotransferase-concentration", "name": "Elevated circulating alanine aminotransferase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-alanine-aminotransferase-concentration" }, { "slug": "elevated-circulating-aspartate-aminotransferase-concentration", "name": "Elevated circulating aspartate aminotransferase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-aspartate-aminotransferase-concentration" }, { "slug": "elevated-circulating-vldl-c-concentration", "name": "Elevated circulating VLDL-C concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-vldl-c-concentration" }, { "slug": "elevated-gamma-glutamyltransferase-level", "name": "Elevated gamma-glutamyltransferase level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-gamma-glutamyltransferase-level" }, { "slug": "clitoral-hypertrophy", "name": "Enlarged clitoris", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/clitoral-hypertrophy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "oligodontia", "name": "Failure of development of more than six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oligodontia" }, { "slug": "fair-hair", "name": "Fair hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/fair-hair" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/edema" }, { "slug": "aplasia-cutis-congenita-of-scalp", "name": "Focal absence of scalp tissue", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/aplasia-cutis-congenita-of-scalp" }, { "slug": "frontal-upsweep-of-hair", "name": "Frontal upsweep of hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/frontal-upsweep-of-hair" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "generalized-edema", "name": "Generalized edema", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/generalized-edema" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "dextrocardia", "name": "Heart tip and four chambers point towards right side of body", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dextrocardia" }, { "slug": "hepatic-fibrosis", "name": "Hepatic fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatic-fibrosis" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "hydronephrosis", "name": "Hydronephrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydronephrosis" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "intrahepatic-cholestasis", "name": "Impaired release of bile from liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intrahepatic-cholestasis" }, { "slug": "exocrine-pancreatic-insufficiency", "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "hepatic-failure", "name": "Liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatic-failure" }, { "slug": "long-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/long-philtrum" }, { "slug": "hypocalcemia", "name": "Low blood calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypocalcemia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "malabsorption", "name": "Malabsorption", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/malabsorption" }, { "slug": "midline-skin-dimples-over-anterior-posterior-fontanelles", "name": "Midline skin dimples over anterior/posterior fontanelles", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/midline-skin-dimples-over-anterior-posterior-fontanelles" }, { "slug": "portal-hypertension", "name": "Portal hypertension", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/portal-hypertension" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "primary-hypothyroidism", "name": "Primary hypothyroidism", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/primary-hypothyroidism" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "severe-intrauterine-growth-retardation", "name": "Severe prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-intrauterine-growth-retardation" }, { "slug": "short-nose", "name": "Short nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-nose" }, { "slug": "micropenis", "name": "Short penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/micropenis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "single-transverse-palmar-crease", "name": "Single transverse palmar crease", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/single-transverse-palmar-crease" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "hypoplastic-nipples", "name": "Small nipples", "systems": [ "abnormality-of-the-breast" ], "url": "https://dantelabs.com/traits/hypoplastic-nipples" }, { "slug": "sparse-scalp-hair", "name": "Sparse scalp hair", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sparse-scalp-hair" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "hypoplasia-of-penis", "name": "Underdeveloped penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-penis" }, { "slug": "underdeveloped-nasal-alae", "name": "Underdeveloped tissue around nostril", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/underdeveloped-nasal-alae" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "upslanted-palpebral-fissure", "name": "Upward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure" }, { "slug": "urethrovaginal-fistula", "name": "Urethrovaginal fistula", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/urethrovaginal-fistula" }, { "slug": "conjunctival-icterus", "name": "Yellowing of the whites of the eyes", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/conjunctival-icterus" } ], "related": [], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }