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"end": 100367831, "strand": "+", "slug": "pilrb" }, { "symbol": "PILRA", "ensemblId": "ENSG00000085514", "biotype": "protein_coding", "start": 100367530, "end": 100400098, "strand": "+", "slug": "pilra" }, { "symbol": "", "ensemblId": "ENSG00000289690", "biotype": "protein_coding", "start": 100397577, "end": 100434107, "strand": "+" }, { "symbol": "ZCWPW1", "ensemblId": "ENSG00000078487", "biotype": "protein_coding", "start": 100400826, "end": 100428992, "strand": "-", "slug": "zcwpw1" }, { "symbol": "MEPCE", "ensemblId": "ENSG00000146834", "biotype": "protein_coding", "start": 100428322, "end": 100435138, "strand": "+", "slug": "mepce" }, { "symbol": "PPP1R35", "ensemblId": "ENSG00000160813", "biotype": "protein_coding", "start": 100435261, "end": 100436546, "strand": "-", "slug": "ppp1r35" }, { "symbol": "SPACDR", "ensemblId": "ENSG00000185955", "biotype": "protein_coding", "start": 100456620, "end": 100464277, "strand": "-", "slug": "spacdr" }, { "symbol": "TSC22D4", "ensemblId": "ENSG00000166925", "biotype": "protein_coding", "start": 100466508, "end": 100479257, "strand": "-", "slug": "tsc22d4" }, { "symbol": "", "ensemblId": "ENSG00000289760", "biotype": "protein_coding", "start": 100478099, "end": 100478170, "strand": "-" }, { "symbol": "NYAP1", "ensemblId": "ENSG00000166924", "biotype": "protein_coding", "start": 100483605, "end": 100494802, "strand": "+", "slug": "nyap1" }, { "symbol": "AGFG2", "ensemblId": "ENSG00000106351", "biotype": "protein_coding", "start": 100539169, "end": 100569429, "strand": "+", "slug": "agfg2" }, { "symbol": "SAP25", "ensemblId": "ENSG00000205307", "biotype": "protein_coding", "start": 100572228, "end": 100573916, "strand": "-", "slug": "sap25" }, { "symbol": "LRCH4", "ensemblId": "ENSG00000077454", "biotype": "protein_coding", "start": 100574011, "end": 100586236, "strand": "-", "slug": "lrch4" }, { "symbol": "FBXO24", "ensemblId": "ENSG00000106336", "biotype": "protein_coding", "start": 100583982, "end": 100601117, "strand": "+", "slug": "fbxo24" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cortical-bone-morphology", "name": "Abnormal cortical bone morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cortical-bone-morphology" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "unilateral-renal-agenesis", "name": "Absent kidney on one side", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unilateral-renal-agenesis" }, { "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": "pachygyria", "name": "Fewer and broader ridges in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pachygyria" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "gray-matter-heterotopia", "name": "Gray matter heterotopia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gray-matter-heterotopia" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "slug": "hypoplasia-of-the-frontal-lobes", "name": "Underdeveloped frontal lobe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-frontal-lobes" }, { "slug": "upslanted-palpebral-fissure", "name": "Upward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure" }, { "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" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }