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71578436, "end": 71613590, "strand": "+", "slug": "gcna" }, { "symbol": "CXCR3", "ensemblId": "ENSG00000186810", "biotype": "protein_coding", "start": 71615912, "end": 71618545, "strand": "-", "slug": "cxcr3" } ], "truncated": false }, "reports": [ { "slug": "intellectual-disability", "name": "Intellektuelle Beeinträchtigung", "diseases": [ { "mondoId": "MONDO:0001071", "name": "intellektuelle Beeinträchtigung", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/de/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "frequent", "url": 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pattern", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-speech-pattern" }, { "slug": "abnormality-of-the-biliary-system", "name": "Abnormality of the biliary system", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-biliary-system" }, { "slug": "abnormal-cerebellum-morphology", "name": "Abnormality of the cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology" }, { "slug": "abnormal-heart-morphology", "name": "Abnormality of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/abnormal-heart-morphology" }, { "slug": "abnormal-large-intestine-morphology", "name": "Abnormality of the large intestine", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-large-intestine-morphology" }, { "slug": "abnormal-sternum-morphology", "name": "Abnormality of the sternum", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-sternum-morphology" }, { "slug": "abnormal-thumb-morphology", "name": "Abnormality of the thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-thumb-morphology" }, { "slug": "abnormality-of-the-voice", "name": "Abnormality of the voice", "systems": [], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-voice" }, { "slug": "vaginal-atresia", "name": "Abnormally closed or absent vagina", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vaginal-atresia" }, { "slug": "abnormally-folded-helix", "name": "Abnormally folded helix", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/abnormally-folded-helix" }, { "slug": "abnormal-pinna-morphology", "name": "Abnormally shaped ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pinna-morphology" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "anal-atresia", "name": "Absent anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anal-atresia" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "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": "frequent", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "anteriorly-placed-anus", "name": "Anteriorly placed anus", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/anteriorly-placed-anus" }, { "slug": "aplasia-hypoplasia-of-the-corpus-callosum", "name": "Aplasia/Hypoplasia of the corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum" }, { "slug": "plagiocephaly", "name": "Asymmetry of the posterior head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/plagiocephaly" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "autism", "name": "Autism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autism" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "cholangitis", "name": "Bile duct inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cholangitis" }, { "slug": "bile-duct-proliferation", "name": "Bile duct proliferation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bile-duct-proliferation" }, { "slug": "cafe-au-lait-spot", "name": "Birthmark", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/cafe-au-lait-spot" }, { "slug": "bladder-exstrophy", "name": "Bladder exstrophy", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bladder-exstrophy" }, { "slug": "choanal-atresia", "name": "Blockage of the rear opening of the nasal cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/choanal-atresia" }, { "slug": "bilateral-cleft-lip", "name": "Both sided cleft lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-cleft-lip" }, { "slug": "broad-hallux", "name": "Broad big toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/broad-hallux" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/brachycephaly" }, { "slug": "broad-neck", "name": "Broad neck", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-neck" }, { "slug": "broad-thumb", "name": "Broad thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/broad-thumb" }, { "slug": "broad-toe", "name": "Broad toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-toe" }, { "slug": "bulbous-nose", "name": "Bulbous nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "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": "occasional", "url": "https://dantelabs.com/traits/aortic-aneurysm" }, { "slug": "ascending-tubular-aorta-aneurysm", "name": "Bulging of wall of large artery located above heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/ascending-tubular-aorta-aneurysm" }, { "slug": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "celiac-disease", "name": "Celiac disease", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/celiac-disease" }, { "slug": "orofacial-cleft", "name": "Cleft of the mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/orofacial-cleft" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "cleft-soft-palate", "name": "Cleft soft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-soft-palate" }, { "slug": "cleft-upper-lip", "name": "Cleft upper lip", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/cleft-upper-lip" }, { "slug": "coarse-facial-features", "name": "Coarse facial features", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coarse-facial-features" }, { "slug": "congenital-diaphragmatic-hernia", "name": "Congenital diaphragmatic hernia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congenital-diaphragmatic-hernia" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "convergence-excess-esotropia", "name": "Convergence excess esotropia", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/convergence-excess-esotropia" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "cupped-ear", "name": "Cupped ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cupped-ear" }, { "slug": "clinodactyly", "name": "Curvature of digit", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clinodactyly" }, { "slug": "clinodactyly-of-the-2nd-finger", "name": "Curvature of index finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clinodactyly-of-the-2nd-finger" }, { "slug": "cyst-of-the-ductus-choledochus", "name": "Cyst of the ductus choledochus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cyst-of-the-ductus-choledochus" }, { "slug": "decreased-body-weight", "name": "Decreased body weight", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-body-weight" }, { "slug": "decreased-circulating-insulin-like-growth-factor-1-concentration", "name": "Decreased circulating insulin-like growth factor 1 concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-insulin-like-growth-factor-1-concentration" }, { "slug": "decreased-liver-function", "name": "Decreased liver function", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-liver-function" }, { "slug": "floppy-infant", "name": "Decreased muscle tone in infant", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/floppy-infant" }, { "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": "microdontia", "name": "Decreased size of tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microdontia" }, { "slug": "thin-vermilion-border", "name": "Decreased volume of lip", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/thin-vermilion-border" }, { "slug": "deep-philtrum", "name": "Deep philtrum", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/deep-philtrum" }, { "slug": "craniosynostosis", "name": "Deformity of the skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/craniosynostosis" }, { "slug": "delayed-closure-of-the-anterior-fontanelle", "name": "Delayed closure of the soft spot on the skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/delayed-closure-of-the-anterior-fontanelle" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dental-crowding", "name": "Dental crowding", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dental-crowding" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "disproportionate-tall-stature", "name": "Disproportionate tall stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/disproportionate-tall-stature" }, { "slug": "vertigo", "name": "Dizziness", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vertigo" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "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": "drooling", "name": "Drooling", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/drooling" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "ectopic-ureteral-orifice", "name": "Ectopic ureteral orifice", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ectopic-ureteral-orifice" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "esophageal-varix", "name": "Enlarged vein in esophagus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/esophageal-varix" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "lumbar-hyperlordosis", "name": "Excessive inward curvature of lower spine", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/lumbar-hyperlordosis" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "facial-wrinkling", "name": "Facial wrinkling", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-wrinkling" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "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": "fine-hair", "name": "Fine hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/fine-hair" }, { "slug": "hyperextensibility-of-the-finger-joints", "name": "Finger joint hyperextensibility", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperextensibility-of-the-finger-joints" }, { "slug": "finger-syndactyly", "name": "Finger syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/finger-syndactyly" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "frontal-upsweep-of-hair", "name": "Frontal upsweep of hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/frontal-upsweep-of-hair" }, { "slug": "thick-vermilion-border", "name": "Full lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thick-vermilion-border" }, { "slug": "thick-lower-lip-vermilion", "name": "Full lower lip", "systems": [ "abnormality-of-head-or-neck" ], "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": "fused-teeth", "name": "Fused teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fused-teeth" }, { "slug": "gastric-varix", "name": "Gastric varix", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastric-varix" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "generalized-neonatal-hypotonia", "name": "Generalized low muscle tone in neonate", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-neonatal-hypotonia" }, { "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": "gray-matter-heterotopia", "name": "Gray matter heterotopia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gray-matter-heterotopia" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hallucinations", "name": "Hallucinations", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hallucinations" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hepatic-fibrosis", "name": "Hepatic fibrosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-fibrosis" }, { "slug": "hyperbilirubinemia", "name": "High blood bilirubin levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperbilirubinemia" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "high-anterior-hairline", "name": "High frontal hairline", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-anterior-hairline" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "abnormally-high-pitched-voice", "name": "High pitched voice", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormally-high-pitched-voice" }, { "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": "hydronephrosis", "name": "Hydronephrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hydronephrosis" }, { "slug": "hydroureter", "name": "Hydroureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydroureter" }, { "slug": "generalized-joint-hypermobility", "name": "Hypermobility of all joints", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-joint-hypermobility" }, { "slug": "hypersplenism", "name": "Hypersplenism", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypersplenism" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "impaired-growth-hormone-response-to-glucagon-stimulation-test", "name": "Impaired growth-hormone response to glucagon stimulation test", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-growth-hormone-response-to-glucagon-stimulation-test" }, { "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": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/splenomegaly" }, { "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": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "intestinal-malrotation", "name": "Intestinal malrotation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intestinal-malrotation" }, { "slug": "intrahepatic-bile-duct-cysts", "name": "Intrahepatic bile duct cysts", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrahepatic-bile-duct-cysts" }, { "slug": "intrahepatic-bile-duct-dilatation", "name": "Intrahepatic bile duct dilatation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intrahepatic-bile-duct-dilatation" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "moderate-intellectual-disability", "name": "IQ between 34 and 49", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/moderate-intellectual-disability" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "joint-contracture-of-the-hand", "name": "Joint contracture of the hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/joint-contracture-of-the-hand" }, { "slug": "macroorchidism", "name": "Large testis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/macroorchidism" }, { "slug": "limited-elbow-extension-and-supination", "name": "Limited elbow extension and supination", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limited-elbow-extension-and-supination" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "hepatic-failure", "name": "Liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-failure" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "long-nose", "name": "Long nose", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/long-nose" }, { "slug": "long-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/long-philtrum" }, { "slug": "arachnodactyly", "name": "Long slender fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arachnodactyly" }, { "slug": "long-thumb", "name": "Long thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-thumb" }, { "slug": "low-frustration-tolerance", "name": "Low frustration tolerance", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/low-frustration-tolerance" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "neonatal-hypotonia", "name": "Low muscle tone, in neonatal onset", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/neonatal-hypotonia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "malrotation-of-colon", "name": "Malrotation of colon", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/malrotation-of-colon" }, { "slug": "meckel-diverticulum", "name": "Meckel diverticulum", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/meckel-diverticulum" }, { "slug": "microtia-first-degree", "name": "Microtia, first degree", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microtia-first-degree" }, { "slug": "mild-hearing-impairment", "name": "Mild hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mild-hearing-impairment" }, { "slug": "mitral-valve-prolapse", "name": "Mitral valve prolapse", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mitral-valve-prolapse" }, { "slug": "hyperactivity", "name": "More active than typical", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyperactivity" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "multiple-joint-contractures", "name": "Multiple joint contractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/multiple-joint-contractures" }, { "slug": "narrow-chest", "name": "Narrow chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/narrow-chest" }, { "slug": "stenosis-of-the-external-auditory-canal", "name": "Narrow ear canal", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/stenosis-of-the-external-auditory-canal" }, { "slug": "narrow-face", "name": "Narrow face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-face" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "narrow-nasal-bridge", "name": "Narrow nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/narrow-nasal-bridge" }, { "slug": "narrow-nose", "name": "Narrow nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-nose" }, { "slug": "blepharophimosis", "name": "Narrow opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/blepharophimosis" }, { "slug": "narrow-palate", "name": "Narrow palate", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/narrow-palate" }, { "slug": "anal-stenosis", "name": "Narrowing of anal opening", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/anal-stenosis" }, { "slug": "coarctation-of-aorta", "name": "Narrowing of aorta", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "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": "occasional", "url": "https://dantelabs.com/traits/pulmonary-artery-stenosis" }, { "slug": "lacrimal-duct-stenosis", "name": "Narrowing of the tear duct", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lacrimal-duct-stenosis" }, { "slug": "hypernasal-speech", "name": "Nasal speech", "systems": [ "abnormality-of-the-voice" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypernasal-speech" }, { "slug": "compulsive-behaviors", "name": "Obsessive compulsive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/compulsive-behaviors" }, { "slug": "unilateral-cleft-palate", "name": "One sided cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/unilateral-cleft-palate" }, { "slug": "unilateral-cleft-lip", "name": "One sided cleft upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/unilateral-cleft-lip" }, { "slug": "open-mouth", "name": "Open mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/open-mouth" }, { "slug": "optic-nerve-hypoplasia", "name": "Optic nerve hypoplasia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "overlapping-toe", "name": "Overlapping toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/overlapping-toe" }, { "slug": "partial-agenesis-of-the-corpus-callosum", "name": "Partial agenesis of the corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/partial-agenesis-of-the-corpus-callosum" }, { "slug": "partial-anomalous-pulmonary-venous-return", "name": "Partial anomalous pulmonary venous return", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/partial-anomalous-pulmonary-venous-return" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "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": "camptodactyly-of-finger", "name": "Permanent flexion of the finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/camptodactyly-of-finger" }, { "slug": "camptodactyly", "name": "Permanent flexion of the finger or toe", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/camptodactyly" }, { "slug": "pigmentary-retinopathy", "name": "Pigmentary retinopathy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pigmentary-retinopathy" }, { "slug": "preauricular-pit", "name": "Pit in front of the ear", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/preauricular-pit" }, { "slug": "reduced-social-responsiveness", "name": "Poor social interactions", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/reduced-social-responsiveness" }, { "slug": "portal-hypertension", "name": "Portal hypertension", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/portal-hypertension" }, { "slug": "portal-inflammation", "name": "Portal inflammation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/portal-inflammation" }, { "slug": "postnatal-macrocephaly", "name": "Postnatal macrocephaly", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/postnatal-macrocephaly" }, { "slug": "premature-birth", "name": "Premature birth", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/premature-birth" }, { "slug": "premature-rupture-of-membranes", "name": "Premature rupture of membranes", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/premature-rupture-of-membranes" }, { "slug": "progressive-flexion-contractures", "name": "Progressive flexion contractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/progressive-flexion-contractures" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "prominent-occiput", "name": "Prominent back of the head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-occiput" }, { "slug": "protruding-ear", "name": "Prominent ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/protruding-ear" }, { "slug": "prominent-fingertip-pads", "name": "Prominent fingertip pads", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/prominent-fingertip-pads" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "prominent-nasal-bridge", "name": "Prominent nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-nasal-bridge" }, { "slug": "prominent-nose", "name": "Prominent nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-nose" }, { "slug": "psychosis", "name": "Psychosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/psychosis" }, { "slug": "pyelonephritis", "name": "Pyelonephritis", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pyelonephritis" }, { "slug": "pyloric-stenosis", "name": "Pyloric stenosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pyloric-stenosis" }, { "slug": "radial-deviation-of-finger", "name": "Radial deviation of finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/radial-deviation-of-finger" }, { "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": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "bilateral-cleft-palate", "name": "Right and left cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-cleft-palate" }, { "slug": "cirrhosis", "name": "Scar tissue replaces healthy tissue in the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cirrhosis" }, { "slug": "schizophrenia", "name": "Schizophrenia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/schizophrenia" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "shawl-scrotum", "name": "Scrotum surrounds penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/shawl-scrotum" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "short-chin", "name": "Short chin", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-chin" }, { "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" ], "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "micropenis", "name": "Short penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/micropenis" }, { "slug": "short-philtrum", "name": "Short philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-philtrum" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "short-thumb", "name": "Short thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-thumb" }, { "slug": "simple-ear", "name": "Simple ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/simple-ear" }, { "slug": "single-transverse-palmar-crease", "name": "Single transverse palmar crease", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/single-transverse-palmar-crease" }, { "slug": "preauricular-skin-tag", "name": "Skin tag in front of the ear", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/preauricular-skin-tag" }, { "slug": "skin-tags", "name": "Skin tags", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/skin-tags" }, { "slug": "slender-build", "name": "Slender build", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/slender-build" }, { "slug": "cholestasis", "name": "Slowed or blocked flow of bile from liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cholestasis" }, { "slug": "microtia", "name": "Small ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microtia" }, { "slug": "small-pituitary-gland", "name": "Small pituitary gland", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/small-pituitary-gland" }, { "slug": "small-scrotum", "name": "Smaller than typical growth of scrotum", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/small-scrotum" }, { "slug": "smooth-philtrum", "name": "Smooth philtrum", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/smooth-philtrum" }, { "slug": "sparse-eyebrow", "name": "Sparse eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sparse-eyebrow" }, { "slug": "sparse-hair", "name": "Sparse hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sparse-hair" }, { "slug": "sacral-dimple", "name": "Spinal dimple", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sacral-dimple" }, { "slug": "split-hand", "name": "Split hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/split-hand" }, { "slug": "hiatus-hernia", "name": "Stomach hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hiatus-hernia" }, { "slug": "tall-stature", "name": "Tall stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tall-stature" }, { "slug": "thick-nasal-alae", "name": "Thick nasal alae", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thick-nasal-alae" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "slug": "thoracolumbar-scoliosis", "name": "Thoracolumbar scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thoracolumbar-scoliosis" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "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": "ulnar-deviation-of-the-hand", "name": "Ulnar deviation of the hand", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ulnar-deviation-of-the-hand" }, { "slug": "umbilical-hernia", "name": "Umbilical hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/umbilical-hernia" }, { "slug": "hypoplasia-of-the-bladder", "name": "Underdeveloped bladder", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-bladder" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "vesicoureteral-reflux", "name": "Vesicoureteral reflux", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vesicoureteral-reflux" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "hematemesis", "name": "Vomiting blood", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hematemesis" }, { "slug": "syndactyly", "name": "Webbed fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/syndactyly" }, { "slug": "broad-based-gait", "name": "Wide based walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-based-gait" }, { "slug": "wide-mouth", "name": "Wide mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-mouth" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "widely-patent-fontanelles-and-sutures", "name": "Widely patent fontanelles and sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/widely-patent-fontanelles-and-sutures" }, { "slug": "widely-spaced-teeth", "name": "Widely spaced teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/widely-spaced-teeth" }, { "slug": "wide-anterior-fontanel", "name": "Wider-than-typical soft spot of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/wide-anterior-fontanel" }, { "slug": "malar-flattening", "name": "Zygomatic flattening", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/malar-flattening" } ], "related": [ { "slug": "acsl4", "symbol": "ACSL4", "name": "acyl-CoA synthetase long chain family member 4", "shared": 1, "url": "https://dantelabs.com/de/genes/acsl4" }, { "slug": "adk", "symbol": "ADK", "name": "adenosine kinase", "shared": 1, "url": "https://dantelabs.com/de/genes/adk" }, { "slug": "adnp", "symbol": "ADNP", "name": "activity dependent neuroprotector homeobox", "shared": 1, "url": "https://dantelabs.com/de/genes/adnp" }, { "slug": "aff2", "symbol": "AFF2", "name": "ALF transcription elongation factor 2", "shared": 1, "url": "https://dantelabs.com/de/genes/aff2" }, { "slug": "ahdc1", "symbol": "AHDC1", "name": "AT-hook DNA binding motif containing 1", "shared": 1, "url": "https://dantelabs.com/de/genes/ahdc1" }, { "slug": "alkbh8", "symbol": "ALKBH8", "name": "alkB homolog 8, tRNA methyltransferase", "shared": 1, "url": "https://dantelabs.com/de/genes/alkbh8" }, { "slug": "ank3", "symbol": "ANK3", "name": "ankyrin 3", "shared": 1, "url": "https://dantelabs.com/de/genes/ank3" }, { "slug": "ankrd11", "symbol": "ANKRD11", "name": "ankyrin repeat domain 11", "shared": 1, "url": "https://dantelabs.com/de/genes/ankrd11" }, { "slug": "ap1s2", "symbol": "AP1S2", "name": "adaptor related protein complex 1 subunit sigma 2", "shared": 1, "url": "https://dantelabs.com/de/genes/ap1s2" }, { "slug": "ap2m1", "symbol": "AP2M1", "name": "adaptor related protein complex 2 subunit mu 1", "shared": 1, "url": "https://dantelabs.com/de/genes/ap2m1" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/de/genes/arhgef9" }, { "slug": "arid1a", "symbol": "ARID1A", "name": "AT-rich interaction domain 1A", "shared": 1, "url": "https://dantelabs.com/de/genes/arid1a" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }