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"PRICKLE3", "ensemblId": "ENSG00000012211", "biotype": "protein_coding", "start": 49174802, "end": 49186528, "strand": "-", "slug": "prickle3" }, { "symbol": "SYP", "ensemblId": "ENSG00000102003", "biotype": "protein_coding", "start": 49187807, "end": 49200218, "strand": "-", "slug": "syp" }, { "symbol": "CACNA1F", "ensemblId": "ENSG00000102001", "biotype": "protein_coding", "start": 49205063, "end": 49233371, "strand": "-", "slug": "cacna1f" }, { "symbol": "CCDC22", "ensemblId": "ENSG00000101997", "biotype": "protein_coding", "start": 49235444, "end": 49250526, "strand": "+", "slug": "ccdc22" }, { "symbol": "FOXP3", "ensemblId": "ENSG00000049768", "biotype": "protein_coding", "start": 49250436, "end": 49264800, "strand": "-", "slug": "foxp3" }, { "symbol": "", "ensemblId": "ENSG00000290184", "biotype": "protein_coding", "start": 49258343, "end": 49270477, "strand": "-" }, { "symbol": "PPP1R3F", "ensemblId": "ENSG00000049769", "biotype": "protein_coding", "start": 49269771, "end": 49301468, "strand": "+", "slug": "ppp1r3f" }, { "symbol": "GAGE10", "ensemblId": "ENSG00000215274", "biotype": "protein_coding", "start": 49303645, "end": 49319844, "strand": "+", "slug": "gage10" } ], "truncated": false }, "reports": [], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "11-pairs-of-ribs", "name": "11 pairs of ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/11-pairs-of-ribs" }, { "slug": "abnormality-of-the-calcaneus", "name": "Abnormal heel bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-calcaneus" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "metaphyseal-cupping-of-metacarpals", "name": "Cupping of wide portion of long bone of hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/metaphyseal-cupping-of-metacarpals" }, { "slug": "decreased-skull-ossification", "name": "Decreased bone formation of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/decreased-skull-ossification" }, { "slug": "rhizomelia", "name": "Disproportionately short upper portion of limb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system", "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/rhizomelia" }, { "slug": "depressed-nasal-ridge", "name": "Flat nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/depressed-nasal-ridge" }, { "slug": "platyspondyly", "name": "Flattened vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/platyspondyly" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "hypoplastic-iliac-wing", "name": "Hypoplastic iliac wing", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplastic-iliac-wing" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "metaphyseal-chondrodysplasia", "name": "Metaphyseal chondrodysplasia", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/metaphyseal-chondrodysplasia" }, { "slug": "metaphyseal-cupping", "name": "Metaphyseal cupping", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/metaphyseal-cupping" }, { "slug": "metaphyseal-cupping-of-proximal-phalanges", "name": "Metaphyseal cupping of proximal phalanges", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/metaphyseal-cupping-of-proximal-phalanges" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "short-foot", "name": "Short foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-foot" }, { "slug": "short-nose", "name": "Short nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-nose" }, { "slug": "distal-shortening-of-limbs", "name": "Short outer part of limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/distal-shortening-of-limbs" }, { "slug": "short-palm", "name": "Short palm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-palm" }, { "slug": "short-philtrum", "name": "Short philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-philtrum" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "cerebellar-hypoplasia", "name": "Small cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-hypoplasia" }, { "slug": "hypoplasia-of-the-calcaneus", "name": "Small heel bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-calcaneus" }, { "slug": "thin-ribs", "name": "Thin ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thin-ribs" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "wide-mouth", "name": "Wide mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-mouth" } ], "related": [], "sources": null, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }