{
  "url": "https://dantelabs.com/el/genes/tuba1a",
  "gene": {
    "slug": "tuba1a",
    "symbol": "TUBA1A",
    "name": "tubulin alpha 1a",
    "hgnc": "HGNC:20766",
    "summary": null,
    "location": "12q13.12",
    "locusType": "gene with protein product",
    "aliases": [
      "TUBA3",
      "B-ALPHA-1",
      "FLJ25113"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000167552",
    "entrezId": 7846,
    "omim": [
      "602529"
    ],
    "uniprot": [
      "Q71U36"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 49184795,
      "end": 49189080,
      "strand": "-",
      "ensemblTranscript": "ENST00000301071.12",
      "refseqTranscript": "NM_006009.4",
      "ensemblProtein": "ENSP00000301071.7",
      "refseqProtein": "NP_006000.2",
      "exons": [
        {
          "start": 49184795,
          "end": 49185990
        },
        {
          "start": 49186310,
          "end": 49186458
        },
        {
          "start": 49186611,
          "end": 49186833
        },
        {
          "start": 49188977,
          "end": 49189080
        }
      ],
      "cds": {
        "start": 49185010,
        "end": 49188979
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 49578579,
      "end": 49583107,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 48686938,
      "end": 49686937,
      "genes": [
        {
          "symbol": "CCNT1",
          "ensemblId": "ENSG00000129315",
          "biotype": "protein_coding",
          "start": 48687601,
          "end": 48716998,
          "strand": "-",
          "slug": "ccnt1"
        },
        {
          "symbol": "SPMIP11",
          "ensemblId": "ENSG00000257987",
          "biotype": "protein_coding",
          "start": 48727435,
          "end": 48765790,
          "strand": "+",
          "slug": "spmip11"
        },
        {
          "symbol": "ADCY6",
          "ensemblId": "ENSG00000174233",
          "biotype": "protein_coding",
          "start": 48766191,
          "end": 48789906,
          "strand": "-",
          "slug": "adcy6"
        },
        {
          "symbol": "CACNB3",
          "ensemblId": "ENSG00000167535",
          "biotype": "protein_coding",
          "start": 48813794,
          "end": 48828942,
          "strand": "+",
          "slug": "cacnb3"
        },
        {
          "symbol": "DDX23",
          "ensemblId": "ENSG00000174243",
          "biotype": "protein_coding",
          "start": 48829756,
          "end": 48852842,
          "strand": "-",
          "slug": "ddx23"
        },
        {
          "symbol": "RND1",
          "ensemblId": "ENSG00000172602",
          "biotype": "protein_coding",
          "start": 48857134,
          "end": 48865870,
          "strand": "-",
          "slug": "rnd1"
        },
        {
          "symbol": "ARF3",
          "ensemblId": "ENSG00000134287",
          "biotype": "protein_coding",
          "start": 48903141,
          "end": 48957531,
          "strand": "-",
          "slug": "arf3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000272822",
          "biotype": "protein_coding",
          "start": 48903503,
          "end": 48957365,
          "strand": "-"
        },
        {
          "symbol": "DRC2",
          "ensemblId": "ENSG00000139537",
          "biotype": "protein_coding",
          "start": 48904105,
          "end": 48931840,
          "strand": "+",
          "slug": "drc2"
        },
        {
          "symbol": "FKBP11",
          "ensemblId": "ENSG00000134285",
          "biotype": "protein_coding",
          "start": 48921518,
          "end": 48927909,
          "strand": "-",
          "slug": "fkbp11"
        },
        {
          "symbol": "WNT10B",
          "ensemblId": "ENSG00000169884",
          "biotype": "protein_coding",
          "start": 48965185,
          "end": 48972669,
          "strand": "-",
          "slug": "wnt10b"
        },
        {
          "symbol": "WNT1",
          "ensemblId": "ENSG00000125084",
          "biotype": "protein_coding",
          "start": 48978322,
          "end": 48982620,
          "strand": "+",
          "slug": "wnt1"
        },
        {
          "symbol": "DDN",
          "ensemblId": "ENSG00000181418",
          "biotype": "protein_coding",
          "start": 48995149,
          "end": 48999375,
          "strand": "-",
          "slug": "ddn"
        },
        {
          "symbol": "PRKAG1",
          "ensemblId": "ENSG00000181929",
          "biotype": "protein_coding",
          "start": 49002272,
          "end": 49018820,
          "strand": "-",
          "slug": "prkag1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000288710",
          "biotype": "protein_coding",
          "start": 49002274,
          "end": 49024075,
          "strand": "-"
        },
        {
          "symbol": "KMT2D",
          "ensemblId": "ENSG00000167548",
          "biotype": "protein_coding",
          "start": 49018975,
          "end": 49060794,
          "strand": "-",
          "slug": "kmt2d"
        },
        {
          "symbol": "RHEBL1",
          "ensemblId": "ENSG00000167550",
          "biotype": "protein_coding",
          "start": 49064675,
          "end": 49070127,
          "strand": "-",
          "slug": "rhebl1"
        },
        {
          "symbol": "DHH",
          "ensemblId": "ENSG00000139549",
          "biotype": "protein_coding",
          "start": 49086656,
          "end": 49094807,
          "strand": "-",
          "slug": "dhh"
        },
        {
          "symbol": "LMBR1L",
          "ensemblId": "ENSG00000139636",
          "biotype": "protein_coding",
          "start": 49096550,
          "end": 49110900,
          "strand": "-",
          "slug": "lmbr1l"
        },
        {
          "symbol": "TUBA1B",
          "ensemblId": "ENSG00000123416",
          "biotype": "protein_coding",
          "start": 49127780,
          "end": 49131398,
          "strand": "-",
          "slug": "tuba1b"
        },
        {
          "symbol": "TUBA1C",
          "ensemblId": "ENSG00000167553",
          "biotype": "protein_coding",
          "start": 49188736,
          "end": 49274600,
          "strand": "+",
          "slug": "tuba1c"
        },
        {
          "symbol": "PRPH",
          "ensemblId": "ENSG00000135406",
          "biotype": "protein_coding",
          "start": 49295141,
          "end": 49298686,
          "strand": "+",
          "slug": "prph"
        },
        {
          "symbol": "TROAP",
          "ensemblId": "ENSG00000135451",
          "biotype": "protein_coding",
          "start": 49323165,
          "end": 49331735,
          "strand": "+",
          "slug": "troap"
        },
        {
          "symbol": "C1QL4",
          "ensemblId": "ENSG00000186897",
          "biotype": "protein_coding",
          "start": 49332409,
          "end": 49337227,
          "strand": "-",
          "slug": "c1ql4"
        },
        {
          "symbol": "DNAJC22",
          "ensemblId": "ENSG00000178401",
          "biotype": "protein_coding",
          "start": 49345607,
          "end": 49357546,
          "strand": "+",
          "slug": "dnajc22"
        },
        {
          "symbol": "SPATS2",
          "ensemblId": "ENSG00000123352",
          "biotype": "protein_coding",
          "start": 49366240,
          "end": 49528438,
          "strand": "+",
          "slug": "spats2"
        },
        {
          "symbol": "KCNH3",
          "ensemblId": "ENSG00000135519",
          "biotype": "protein_coding",
          "start": 49539020,
          "end": 49558346,
          "strand": "+",
          "slug": "kcnh3"
        },
        {
          "symbol": "MCRS1",
          "ensemblId": "ENSG00000187778",
          "biotype": "protein_coding",
          "start": 49556544,
          "end": 49568150,
          "strand": "-",
          "slug": "mcrs1"
        },
        {
          "symbol": "PRPF40B",
          "ensemblId": "ENSG00000110844",
          "biotype": "protein_coding",
          "start": 49568218,
          "end": 49644666,
          "strand": "+",
          "slug": "prpf40b"
        },
        {
          "symbol": "FAM186B",
          "ensemblId": "ENSG00000135436",
          "biotype": "protein_coding",
          "start": 49582885,
          "end": 49605639,
          "strand": "-",
          "slug": "fam186b"
        },
        {
          "symbol": "FMNL3",
          "ensemblId": "ENSG00000161791",
          "biotype": "protein_coding",
          "start": 49636499,
          "end": 49708165,
          "strand": "-",
          "slug": "fmnl3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-cranial-dysinnervation-disorders",
        "name": "Εκ γενετής δυσεννερβώσεις κρανιακών νεύρων",
        "diseases": [
          {
            "mondoId": "MONDO:0007614",
            "name": "Εκ γενετής ίνωση των εξωοφθαλμικών μυών",
            "genes": 5,
            "inheritance": null,
            "description": "Μια ομάδα παθήσεων, που προκαλούνται από μεταβολές σε γονίδια όπως τα KIF21A, TUBB3 και PHOX2A, κατά τις οποίες οι κινήσεις των ματιών περιορίζονται και τα βλέφαρα συχνά πέφτουν από τη γέννηση.",
            "management": "Μια γενετική διάγνωση εξηγεί την πάθηση, μπορεί να καθοδηγήσει τον προγραμματισμό της χειρουργικής επέμβασης στους μυς των οφθαλμών και των βλεφάρων και ενημερώνει για τον κίνδυνο επανεμφάνισης.",
            "evidence": {
              "gencc": [
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/congenital-cranial-dysinnervation-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-best-corrected-visual-acuity-test",
        "name": "Abnormal best corrected visual acuity test",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-best-corrected-visual-acuity-test"
      },
      {
        "slug": "abnormal-corpus-callosum-morphology",
        "name": "Abnormal corpus callosum morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-corpus-callosum-morphology"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "abnormal-involuntary-eye-movements",
        "name": "Abnormal involuntary eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-involuntary-eye-movements"
      },
      {
        "slug": "abnormal-morphology-of-the-olfactory-bulb",
        "name": "Abnormal morphology of the olfactory bulb",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-morphology-of-the-olfactory-bulb"
      },
      {
        "slug": "abnormal-brainstem-morphology",
        "name": "Abnormal shape of brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-brainstem-morphology"
      },
      {
        "slug": "abnormal-thalamus-morphology",
        "name": "Abnormal thalamus morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-thalamus-morphology"
      },
      {
        "slug": "abnormal-visual-field-test",
        "name": "Abnormal visual field test",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-visual-field-test"
      },
      {
        "slug": "abnormality-of-ocular-abduction",
        "name": "Abnormality of ocular abduction",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-ocular-abduction"
      },
      {
        "slug": "abnormality-of-refraction",
        "name": "Abnormality of refraction",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-refraction"
      },
      {
        "slug": "abnormality-of-the-internal-capsule",
        "name": "Abnormality of the internal capsule",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-internal-capsule"
      },
      {
        "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": "absent-bell-phenomenon",
        "name": "Absent Bell phenomenon",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-bell-phenomenon"
      },
      {
        "slug": "finger-aplasia",
        "name": "Absent fingers",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/finger-aplasia"
      },
      {
        "slug": "absent-palmar-crease",
        "name": "Absent palm lines",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/absent-palmar-crease"
      },
      {
        "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": "agyria",
        "name": "Agyria",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agyria"
      },
      {
        "slug": "akinesia",
        "name": "Akinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/akinesia"
      },
      {
        "slug": "aplasia-of-the-olfactory-bulb",
        "name": "Aplasia of the olfactory bulb",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-of-the-olfactory-bulb"
      },
      {
        "slug": "arthrogryposis-multiplex-congenita",
        "name": "Arthrogryposis multiplex congenita",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arthrogryposis-multiplex-congenita"
      },
      {
        "slug": "anisocoria",
        "name": "Asymmetric pupil sizes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anisocoria"
      },
      {
        "slug": "plagiocephaly",
        "name": "Asymmetry of the posterior head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/plagiocephaly"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "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": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "generalized-non-motor-absence-seizure",
        "name": "Brief seizures with staring spells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure"
      },
      {
        "slug": "cerebellar-vermis-hypoplasia",
        "name": "Cerebellar vermis hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "compensatory-chin-elevation",
        "name": "Compensatory chin elevation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/compensatory-chin-elevation"
      },
      {
        "slug": "congenital-fibrosis-of-extraocular-muscles",
        "name": "Congenital fibrosis of extraocular muscles",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/congenital-fibrosis-of-extraocular-muscles"
      },
      {
        "slug": "congenital-sensorineural-hearing-impairment",
        "name": "Congenital sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment"
      },
      {
        "slug": "miosis",
        "name": "Constricted pupils",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/miosis"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "dandy-walker-malformation",
        "name": "Dandy-Walker malformation",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "hypokinesia",
        "name": "Decreased muscle movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypokinesia"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "generalized-amyotrophy",
        "name": "Diffuse skeletal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-amyotrophy"
      },
      {
        "slug": "dilated-fourth-ventricle",
        "name": "Dilated fourth ventricle",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilated-fourth-ventricle"
      },
      {
        "slug": "bilateral-ptosis",
        "name": "Drooping of both upper eyelids",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bilateral-ptosis"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dysgenesis-of-the-basal-ganglia",
        "name": "Dysgenesis of the basal ganglia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysgenesis-of-the-basal-ganglia"
      },
      {
        "slug": "dysgenesis-of-the-hippocampus",
        "name": "Dysgenesis of the hippocampus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysgenesis-of-the-hippocampus"
      },
      {
        "slug": "dysgyria",
        "name": "Dysgyria",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysgyria"
      },
      {
        "slug": "dysplastic-corpus-callosum",
        "name": "Dysplastic corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysplastic-corpus-callosum"
      },
      {
        "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": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "excessive-daytime-somnolence",
        "name": "Excessive daytime sleepiness",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/excessive-daytime-somnolence"
      },
      {
        "slug": "fetal-akinesia-sequence",
        "name": "Fetal akinesia sequence",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fetal-akinesia-sequence"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "lissencephaly",
        "name": "Fewer or absent grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lissencephaly"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-tonic-seizure",
        "name": "Generalized tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/generalized-tonic-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "bilateral-tonic-clonic-seizure",
        "name": "Grand mal seizures",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure"
      },
      {
        "slug": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "polyhydramnios",
        "name": "High levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/polyhydramnios"
      },
      {
        "slug": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "hypoplasia-of-the-pons",
        "name": "Hypoplasia of the pons",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-pons"
      },
      {
        "slug": "hypoplastic-anterior-limbs-of-the-internal-capsule",
        "name": "Hypoplastic anterior limbs of the internal capsule",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-anterior-limbs-of-the-internal-capsule"
      },
      {
        "slug": "impaired-ocular-adduction",
        "name": "Impaired ocular adduction",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/impaired-ocular-adduction"
      },
      {
        "slug": "infantile-spasms",
        "name": "Infantile spasms",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infantile-spasms"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/severe-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": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "esotropia",
        "name": "Inward turning cross eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/esotropia"
      },
      {
        "slug": "abnormal-pupil-shape",
        "name": "Irregular pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pupil-shape"
      },
      {
        "slug": "amblyopia",
        "name": "Lazy eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/amblyopia"
      },
      {
        "slug": "levator-palpebrae-superioris-atrophy",
        "name": "Levator palpebrae superioris atrophy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/levator-palpebrae-superioris-atrophy"
      },
      {
        "slug": "limited-vertical-extraocular-movement",
        "name": "Limited vertical extraocular movement",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limited-vertical-extraocular-movement"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "marcus-gunn-jaw-winking-synkinesis",
        "name": "Marcus Gunn jaw winking synkinesis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/marcus-gunn-jaw-winking-synkinesis"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "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"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multiple-joint-contractures"
      },
      {
        "slug": "nonprogressive-restrictive-external-ophthalmoplegia",
        "name": "Nonprogressive restrictive external ophthalmoplegia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nonprogressive-restrictive-external-ophthalmoplegia"
      },
      {
        "slug": "oculomotor-apraxia",
        "name": "Oculomotor apraxia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/oculomotor-apraxia"
      },
      {
        "slug": "optic-nerve-hypoplasia",
        "name": "Optic nerve hypoplasia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia"
      },
      {
        "slug": "exotropia",
        "name": "Outward facing eye ball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/exotropia"
      },
      {
        "slug": "partial-agenesis-of-the-corpus-callosum",
        "name": "Partial agenesis of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/partial-agenesis-of-the-corpus-callosum"
      },
      {
        "slug": "perisylvian-polymicrogyria",
        "name": "Perisylvian polymicrogyria",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/perisylvian-polymicrogyria"
      },
      {
        "slug": "periventricular-laminar-heterotopia",
        "name": "Periventricular laminar heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/periventricular-laminar-heterotopia"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "pterygium",
        "name": "Pterygium",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pterygium"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "focal-onset-seizure",
        "name": "Seizure affecting one half of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/focal-onset-seizure"
      },
      {
        "slug": "slow-pupillary-light-response",
        "name": "Slow pupillary light response",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/slow-pupillary-light-response"
      },
      {
        "slug": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "hypoplastic-hippocampus",
        "name": "Small hippocampus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplastic-hippocampus"
      },
      {
        "slug": "microretrognathia",
        "name": "Small retruded chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microretrognathia"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "startle-induced-seizure",
        "name": "Startle-induced seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/startle-induced-seizure"
      },
      {
        "slug": "intestinal-hypoplasia",
        "name": "Underdeveloped instestine",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intestinal-hypoplasia"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "vomiting",
        "name": "Vomiting",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vomiting"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "torticollis",
        "name": "Wry neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/torticollis"
      }
    ],
    "related": [
      {
        "slug": "col25a1",
        "symbol": "COL25A1",
        "name": "collagen type XXV alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/col25a1"
      },
      {
        "slug": "kif21a",
        "symbol": "KIF21A",
        "name": "kinesin family member 21A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/kif21a"
      },
      {
        "slug": "phox2a",
        "symbol": "PHOX2A",
        "name": "paired like homeobox 2A",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/phox2a"
      },
      {
        "slug": "tubb3",
        "symbol": "TUBB3",
        "name": "tubulin beta 3 class III",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/tubb3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}