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"protein_coding", "start": 35909488, "end": 35937153, "strand": "+", "slug": "spaar" }, { "symbol": "OR2S2", "ensemblId": "ENSG00000278889", "biotype": "protein_coding", "start": 35957108, "end": 35958154, "strand": "-", "slug": "or2s2" }, { "symbol": "OR13C7", "ensemblId": "ENSG00000243641", "biotype": "protein_coding", "start": 36002909, "end": 36003867, "strand": "-", "slug": "or13c7" } ], "truncated": false }, "reports": [ { "slug": "intellectual-disability", "name": "Intellectual Disability", "diseases": [ { "mondoId": "MONDO:0001071", "name": "intellectual disability", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "brain-atrophy", "name": "Brain degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/brain-atrophy" }, { "slug": "bulbous-nose", "name": "Bulbous nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bulbous-nose" }, { "slug": "clonus", "name": "Clonus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clonus" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "conical-tooth", "name": "Cone shaped tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/conical-tooth" }, { "slug": "decreased-muscle-mass", "name": "Decreased muscle mass", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/decreased-muscle-mass" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "secondary-microcephaly", "name": "Development of small head that was not present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/secondary-microcephaly" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "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": "eeg-abnormality", "name": "EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/eeg-abnormality" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "highly-arched-eyebrow", "name": "Highly arched eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/highly-arched-eyebrow" }, { "slug": "hypsarrhythmia", "name": "Hypsarrhythmia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypsarrhythmia" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "infantile-spasms", "name": "Infantile spasms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/infantile-spasms" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "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": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "long-eyelashes", "name": "Long eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/long-eyelashes" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "long-fingers", "name": "Long fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/long-fingers" }, { "slug": "dolichocephaly", "name": "Long, narrow head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dolichocephaly" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "synophrys", "name": "Monobrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/synophrys" }, { "slug": "hyperactivity", "name": "More active than typical", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperactivity" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "prominent-fingertip-pads", "name": "Prominent fingertip pads", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-fingertip-pads" }, { "slug": "prominent-nose", "name": "Prominent nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-nose" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "atonic-seizure", "name": "Sudden loss of muscle tone", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atonic-seizure" }, { "slug": "tapered-finger", "name": "Tapered finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tapered-finger" }, { "slug": "thick-eyebrow", "name": "Thick eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thick-eyebrow" }, { "slug": "thick-hair", "name": "Thick hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thick-hair" }, { "slug": "tonic-seizure", "name": "Tonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tonic-seizure" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "unsteady-gait", "name": "Unsteady walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unsteady-gait" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "acsl4", "symbol": "ACSL4", "name": "acyl-CoA synthetase long chain family member 4", "shared": 1, "url": "https://dantelabs.com/genes/acsl4" }, { "slug": "adk", "symbol": "ADK", "name": "adenosine kinase", "shared": 1, "url": "https://dantelabs.com/genes/adk" }, { "slug": "adnp", "symbol": "ADNP", "name": "activity dependent neuroprotector homeobox", "shared": 1, "url": "https://dantelabs.com/genes/adnp" }, { "slug": "aff2", "symbol": "AFF2", "name": "ALF transcription elongation factor 2", "shared": 1, "url": "https://dantelabs.com/genes/aff2" }, { "slug": "ahdc1", "symbol": "AHDC1", "name": "AT-hook DNA binding motif containing 1", "shared": 1, "url": "https://dantelabs.com/genes/ahdc1" }, { "slug": "alkbh8", "symbol": "ALKBH8", "name": "alkB homolog 8, tRNA methyltransferase", "shared": 1, "url": "https://dantelabs.com/genes/alkbh8" }, { "slug": "ank3", "symbol": "ANK3", "name": "ankyrin 3", "shared": 1, "url": "https://dantelabs.com/genes/ank3" }, { "slug": "ankrd11", "symbol": "ANKRD11", "name": "ankyrin repeat domain 11", "shared": 1, "url": "https://dantelabs.com/genes/ankrd11" }, { "slug": "ap1s2", "symbol": "AP1S2", "name": "adaptor related protein complex 1 subunit sigma 2", "shared": 1, "url": "https://dantelabs.com/genes/ap1s2" }, { "slug": "ap2m1", "symbol": "AP2M1", "name": "adaptor related protein complex 2 subunit mu 1", "shared": 1, "url": "https://dantelabs.com/genes/ap2m1" }, { "slug": "arhgef9", "symbol": "ARHGEF9", "name": "Cdc42 guanine nucleotide exchange factor 9", "shared": 1, "url": "https://dantelabs.com/genes/arhgef9" }, { "slug": "arid1a", "symbol": "ARID1A", "name": "AT-rich interaction domain 1A", "shared": 1, "url": "https://dantelabs.com/genes/arid1a" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }