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"slug": "dus2" }, { "symbol": "DPEP2NB", "ensemblId": "ENSG00000263201", "biotype": "protein_coding", "start": 68013436, "end": 68015911, "strand": "-", "slug": "dpep2nb" }, { "symbol": "DDX28", "ensemblId": "ENSG00000182810", "biotype": "protein_coding", "start": 68020916, "end": 68023232, "strand": "-", "slug": "ddx28" }, { "symbol": "NFATC3", "ensemblId": "ENSG00000072736", "biotype": "protein_coding", "start": 68084751, "end": 68229259, "strand": "+", "slug": "nfatc3" }, { "symbol": "ESRP2", "ensemblId": "ENSG00000103067", "biotype": "protein_coding", "start": 68225974, "end": 68238102, "strand": "-", "slug": "esrp2" }, { "symbol": "PLA2G15", "ensemblId": "ENSG00000103066", "biotype": "protein_coding", "start": 68245304, "end": 68261063, "strand": "+", "slug": "pla2g15" }, { "symbol": "SLC7A6", "ensemblId": "ENSG00000103064", "biotype": "protein_coding", "start": 68264173, "end": 68301853, "strand": "+", "slug": "slc7a6" }, { "symbol": "SLC7A6OS", "ensemblId": "ENSG00000103061", "biotype": "protein_coding", "start": 68284498, "end": 68310968, "strand": "-", "slug": "slc7a6os" }, { "symbol": "PRMT7", "ensemblId": "ENSG00000132600", "biotype": "protein_coding", "start": 68310916, "end": 68360852, "strand": "+", "slug": "prmt7" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "convex-nasal-ridge", "name": "Beaked nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/convex-nasal-ridge" }, { "slug": "decreased-body-weight", "name": "Decreased body weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-body-weight" }, { "slug": "delayed-puberty", "name": "Delayed puberty", "systems": [ "abnormality-of-the-endocrine-system", "growth-abnormality" ], "url": "https://dantelabs.com/traits/delayed-puberty" }, { "slug": "delayed-thelarche", "name": "Delayed thelarche", "systems": [ "abnormality-of-the-endocrine-system", "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-thelarche" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "dysharmonic-delayed-bone-age", "name": "Dysharmonic delayed bone age", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysharmonic-delayed-bone-age" }, { "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": "obligate", "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "genu-valgum", "name": "Knock knees", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/genu-valgum" }, { "slug": "narrow-face", "name": "Narrow face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-face" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "phimosis", "name": "Phimosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/phimosis" }, { "slug": "prominent-nose", "name": "Prominent nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-nose" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "severe-short-stature", "name": "Severe short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-short-stature" }, { "slug": "micropenis", "name": "Short penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/micropenis" }, { "slug": "hypoplastic-fingernail", "name": "Small fingernail", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplastic-fingernail" }, { "slug": "external-genital-hypoplasia", "name": "Underdevelopment of external reproductive organs", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/external-genital-hypoplasia" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }