{
  "url": "https://dantelabs.com/es/genes/pomgnt1",
  "gene": {
    "slug": "pomgnt1",
    "symbol": "POMGNT1",
    "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
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      "FLJ20277",
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      "LGMD2O"
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      "MEB"
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    "ensemblId": "ENSG00000085998",
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    "omim": [
      "606822"
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    "uniprot": [
      "Q8WZA1"
    ],
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      "release": "v1.5",
      "chrom": "1",
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      "end": 46198434,
      "strand": "-",
      "ensemblTranscript": "ENST00000371984.8",
      "refseqTranscript": "NM_017739.4",
      "ensemblProtein": "ENSP00000361052.3",
      "refseqProtein": "NP_060209.4",
      "exons": [
        {
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        }
      ],
      "cds": {
        "start": 46189270,
        "end": 46197821
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 46654354,
      "end": 46685977,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 45693559,
      "end": 46693558,
      "genes": [
        {
          "symbol": "TMEM69",
          "ensemblId": "ENSG00000159596",
          "biotype": "protein_coding",
          "start": 45688149,
          "end": 45718150,
          "strand": "+",
          "slug": "tmem69"
        },
        {
          "symbol": "KLHL27",
          "ensemblId": "ENSG00000197429",
          "biotype": "protein_coding",
          "start": 45692370,
          "end": 45750805,
          "strand": "-",
          "slug": "klhl27"
        },
        {
          "symbol": "MAST2",
          "ensemblId": "ENSG00000086015",
          "biotype": "protein_coding",
          "start": 45786987,
          "end": 46036228,
          "strand": "+",
          "slug": "mast2"
        },
        {
          "symbol": "PIK3R3",
          "ensemblId": "ENSG00000117461",
          "biotype": "protein_coding",
          "start": 46040140,
          "end": 46133346,
          "strand": "-",
          "slug": "pik3r3"
        },
        {
          "symbol": "P3R3URF-PIK3R3",
          "ensemblId": "ENSG00000278139",
          "biotype": "protein_coding",
          "start": 46043661,
          "end": 46176488,
          "strand": "-",
          "slug": "p3r3urf-pik3r3"
        },
        {
          "symbol": "P3R3URF",
          "ensemblId": "ENSG00000250719",
          "biotype": "protein_coding",
          "start": 46171017,
          "end": 46176488,
          "strand": "-",
          "slug": "p3r3urf"
        },
        {
          "symbol": "TSPAN1",
          "ensemblId": "ENSG00000117472",
          "biotype": "protein_coding",
          "start": 46173780,
          "end": 46196490,
          "strand": "+",
          "slug": "tspan1"
        },
        {
          "symbol": "LURAP1",
          "ensemblId": "ENSG00000171357",
          "biotype": "protein_coding",
          "start": 46203191,
          "end": 46223718,
          "strand": "+",
          "slug": "lurap1"
        },
        {
          "symbol": "RAD54L",
          "ensemblId": "ENSG00000085999",
          "biotype": "protein_coding",
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          "end": 46282459,
          "strand": "+",
          "slug": "rad54l"
        },
        {
          "symbol": "LRRC41",
          "ensemblId": "ENSG00000132128",
          "biotype": "protein_coding",
          "start": 46261195,
          "end": 46303630,
          "strand": "-",
          "slug": "lrrc41"
        },
        {
          "symbol": "UQCRH",
          "ensemblId": "ENSG00000173660",
          "biotype": "protein_coding",
          "start": 46300900,
          "end": 46334910,
          "strand": "+",
          "slug": "uqcrh"
        },
        {
          "symbol": "NSUN4",
          "ensemblId": "ENSG00000117481",
          "biotype": "protein_coding",
          "start": 46340691,
          "end": 46369218,
          "strand": "+",
          "slug": "nsun4"
        },
        {
          "symbol": "FAAH",
          "ensemblId": "ENSG00000117480",
          "biotype": "protein_coding",
          "start": 46394265,
          "end": 46415754,
          "strand": "+",
          "slug": "faah"
        },
        {
          "symbol": "DMBX1",
          "ensemblId": "ENSG00000197587",
          "biotype": "protein_coding",
          "start": 46489822,
          "end": 46516218,
          "strand": "+",
          "slug": "dmbx1"
        },
        {
          "symbol": "TMEM275",
          "ensemblId": "ENSG00000282881",
          "biotype": "protein_coding",
          "start": 46532166,
          "end": 46544566,
          "strand": "-",
          "slug": "tmem275"
        },
        {
          "symbol": "KNCN",
          "ensemblId": "ENSG00000162456",
          "biotype": "protein_coding",
          "start": 46545641,
          "end": 46551647,
          "strand": "-",
          "slug": "kncn"
        },
        {
          "symbol": "MKNK1",
          "ensemblId": "ENSG00000079277",
          "biotype": "protein_coding",
          "start": 46557407,
          "end": 46616850,
          "strand": "-",
          "slug": "mknk1"
        },
        {
          "symbol": "MOB3C",
          "ensemblId": "ENSG00000142961",
          "biotype": "protein_coding",
          "start": 46607707,
          "end": 46616889,
          "strand": "-",
          "slug": "mob3c"
        },
        {
          "symbol": "ATPAF1",
          "ensemblId": "ENSG00000123472",
          "biotype": "protein_coding",
          "start": 46632071,
          "end": 46673867,
          "strand": "-",
          "slug": "atpaf1"
        },
        {
          "symbol": "TEX38",
          "ensemblId": "ENSG00000186118",
          "biotype": "protein_coding",
          "start": 46668855,
          "end": 46673595,
          "strand": "+",
          "slug": "tex38"
        },
        {
          "symbol": "EFCAB14",
          "ensemblId": "ENSG00000159658",
          "biotype": "protein_coding",
          "start": 46674659,
          "end": 46719146,
          "strand": "-",
          "slug": "efcab14"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-muscular-dystrophies",
        "name": "Distrofias musculares congénitas",
        "diseases": [
          {
            "mondoId": "MONDO:0019950",
            "name": "Distrofia muscular congénita",
            "genes": 29,
            "inheritance": null,
            "description": "Grupo de distrofias musculares de inicio al nacer o en la lactancia, que incluye las distroglicanopatías (como las formas relacionadas con FKRP, FKTN y POMT1/2).",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/congenital-muscular-dystrophies"
      },
      {
        "slug": "limb-girdle-muscular-dystrophy",
        "name": "Distrofia muscular de cinturas",
        "diseases": [
          {
            "mondoId": "MONDO:0016971",
            "name": "Distrofia muscular de cinturas",
            "genes": 33,
            "inheritance": null,
            "description": "La distrofia muscular de cinturas comprende un conjunto de numerosos subtipos con diferentes patrones de herencia (cuya validez diagnóstica también varía). Se recomienda a las personas portadoras de variantes relacionadas con esta afección que consulten a un especialista musculoesquelético para obtener un diagnóstico definitivo.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/limb-girdle-muscular-dystrophy"
      },
      {
        "slug": "disorder-of-glycosylation",
        "name": "Trastornos congénitos de la glicosilación",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "Trastornos congénitos de la glicosilación (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Un amplio grupo de afecciones hereditarias en las que las cadenas de azúcares (glicanos) no se forman ni se unen correctamente a las proteínas y a los lípidos, y que a menudo afectan al cerebro, el hígado, la coagulación sanguínea, el crecimiento y otros muchos sistemas del organismo. La mayoría son autosómicas recesivas, pero algunas son ligadas al cromosoma X o autosómicas dominantes.",
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/es/conditions/disorder-of-glycosylation"
      },
      {
        "slug": "retinitis-pigmentosa",
        "name": "Retinosis pigmentaria",
        "diseases": [
          {
            "mondoId": "MONDO:0019200",
            "name": "Retinosis pigmentaria",
            "genes": 77,
            "inheritance": null,
            "description": "Grupo de distrofias retinianas hereditarias caracterizadas por la pérdida progresiva de los fotorreceptores (primero los bastones y luego los conos), lo que provoca ceguera nocturna y una pérdida gradual de la visión periférica.",
            "management": null,
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/es/conditions/retinitis-pigmentosa"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-central-response-of-multifocal-electroretinogram",
        "name": "Abnormal central response of multifocal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-central-response-of-multifocal-electroretinogram"
      },
      {
        "slug": "abnormal-cerebellar-vermis-morphology",
        "name": "Abnormal cerebellar vermis morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebellar-vermis-morphology"
      },
      {
        "slug": "abnormal-circulating-aldolase-concentration",
        "name": "Abnormal circulating aldolase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-aldolase-concentration"
      },
      {
        "slug": "abnormal-circulating-lactate-dehydrogenase-concentration",
        "name": "Abnormal circulating lactate dehydrogenase concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-lactate-dehydrogenase-concentration"
      },
      {
        "slug": "color-vision-defect",
        "name": "Abnormal color vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/color-vision-defect"
      },
      {
        "slug": "abnormal-cortical-gyration",
        "name": "Abnormal cortical gyration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cortical-gyration"
      },
      {
        "slug": "abnormal-electroretinogram",
        "name": "Abnormal electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-electroretinogram"
      },
      {
        "slug": "abnormal-full-field-electroretinogram",
        "name": "Abnormal full-field electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/gait-disturbance"
      },
      {
        "slug": "abnormal-circulating-creatine-kinase-activity",
        "name": "Abnormal levels of creatine kinase in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-circulating-creatine-kinase-activity"
      },
      {
        "slug": "abnormal-pyramidal-sign",
        "name": "Abnormal pyramidal sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormal-brain-morphology",
        "name": "Abnormal shape of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-brain-morphology"
      },
      {
        "slug": "abnormal-brainstem-morphology",
        "name": "Abnormal shape of brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-brainstem-morphology"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormality-of-movement",
        "name": "Abnormality of movement",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-movement"
      },
      {
        "slug": "abnormality-of-neuronal-migration",
        "name": "Abnormality of neuronal migration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration"
      },
      {
        "slug": "abnormal-retinal-vascular-morphology",
        "name": "Abnormality of retina blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-vascular-morphology"
      },
      {
        "slug": "abnormal-cerebellum-morphology",
        "name": "Abnormality of the cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology"
      },
      {
        "slug": "abnormality-iris-morphology",
        "name": "Abnormality of the iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-iris-morphology"
      },
      {
        "slug": "abnormality-of-the-voice",
        "name": "Abnormality of the voice",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-voice"
      },
      {
        "slug": "macroglossia",
        "name": "Abnormally large tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macroglossia"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "anophthalmia",
        "name": "Absence of eyeballs",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anophthalmia"
      },
      {
        "slug": "areflexia",
        "name": "Absent reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/areflexia"
      },
      {
        "slug": "absent-septum-pellucidum",
        "name": "Absent septum pellucidum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-septum-pellucidum"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-cerebellum",
        "name": "Absent/small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellum"
      },
      {
        "slug": "aplasia-hypoplasia-involving-the-skeletal-musculature",
        "name": "Absent/small skeletal muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-involving-the-skeletal-musculature"
      },
      {
        "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": "aplasia-hypoplasia-of-the-corpus-callosum",
        "name": "Aplasia/Hypoplasia of the corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "bifid-uvula",
        "name": "Bifid uvula",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-uvula"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "occipital-encephalocele",
        "name": "Brain tissue sticks out through back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/occipital-encephalocele"
      },
      {
        "slug": "retinal-dystrophy",
        "name": "Breakdown of light-sensitive cells in back of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-dystrophy"
      },
      {
        "slug": "keratoconus",
        "name": "Bulging cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconus"
      },
      {
        "slug": "calf-muscle-pseudohypertrophy",
        "name": "Calf muscle pseudohypertrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/calf-muscle-pseudohypertrophy"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "cerebellar-cyst",
        "name": "Cerebellar cyst",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-cyst"
      },
      {
        "slug": "cerebellar-dysplasia",
        "name": "Cerebellar dysplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebellar-dysplasia"
      },
      {
        "slug": "chorioretinal-dysplasia",
        "name": "Chorioretinal dysplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/chorioretinal-dysplasia"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "clonus",
        "name": "Clonus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clonus"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "slug": "conductive-hearing-impairment",
        "name": "Conductive deafness",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/conductive-hearing-impairment"
      },
      {
        "slug": "microcornea",
        "name": "Cornea of eye less than 10mm in diameter",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/microcornea"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cystoid-macular-edema",
        "name": "Cystoid macular edema",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cystoid-macular-edema"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/dandy-walker-malformation"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "decreased-light-and-dark-adapted-electroretinogram-amplitude",
        "name": "Decreased light- and dark-adapted electroretinogram amplitude",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/decreased-light-and-dark-adapted-electroretinogram-amplitude"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "decreased-thalamic-volume",
        "name": "Decreased thalamic volume",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-thalamic-volume"
      },
      {
        "slug": "nyctalopia",
        "name": "Difficulties with night vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nyctalopia"
      },
      {
        "slug": "difficulty-climbing-stairs",
        "name": "Difficulty walking up stairs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/difficulty-climbing-stairs"
      },
      {
        "slug": "diffuse-white-matter-abnormalities",
        "name": "Diffuse white matter abnormalities",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diffuse-white-matter-abnormalities"
      },
      {
        "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": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "everted-lower-lip-vermilion",
        "name": "Drooping lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/everted-lower-lip-vermilion"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "elevated-circulating-creatine-kinase-activity",
        "name": "Elevated blood creatine phosphokinase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity"
      },
      {
        "slug": "emg-abnormality",
        "name": "EMG abnormality",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emg-abnormality"
      },
      {
        "slug": "megalocornea",
        "name": "Enlarged cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/megalocornea"
      },
      {
        "slug": "buphthalmos",
        "name": "Enlarged eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/buphthalmos"
      },
      {
        "slug": "enlarged-flash-visual-evoked-potentials",
        "name": "Enlarged flash visual evoked potentials",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/enlarged-flash-visual-evoked-potentials"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "lumbar-hyperlordosis",
        "name": "Excessive inward curvature of lower spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lumbar-hyperlordosis"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "ophthalmoplegia",
        "name": "Eye muscle paralysis",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ophthalmoplegia"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "lissencephaly",
        "name": "Fewer or absent grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lissencephaly"
      },
      {
        "slug": "fusion-of-the-cerebellar-hemispheres",
        "name": "Fusion of the cerebellar hemispheres",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/fusion-of-the-cerebellar-hemispheres"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "generalized-muscle-weakness",
        "name": "Generalized muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-muscle-weakness"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "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": "gowers-sign",
        "name": "Gowers sign",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "gray-matter-heterotopia",
        "name": "Gray matter heterotopia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gray-matter-heterotopia"
      },
      {
        "slug": "holoprosencephaly",
        "name": "Holoprosencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/holoprosencephaly"
      },
      {
        "slug": "hyperautofluorescent-macular-lesion",
        "name": "Hyperautofluorescent macular lesion",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hyperautofluorescent-macular-lesion"
      },
      {
        "slug": "hyperinsulinemia",
        "name": "Hyperinsulinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperinsulinemia"
      },
      {
        "slug": "hypoglycosylation-of-alpha-dystroglycan",
        "name": "Hypoglycosylation of alpha-dystroglycan",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoglycosylation-of-alpha-dystroglycan"
      },
      {
        "slug": "hypoplasia-of-the-pons",
        "name": "Hypoplasia of the pons",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-pons"
      },
      {
        "slug": "increased-endomysial-connective-tissue",
        "name": "Increased endomysial connective tissue",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-endomysial-connective-tissue"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "calf-muscle-hypertrophy",
        "name": "Increased size of calf muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/calf-muscle-hypertrophy"
      },
      {
        "slug": "skeletal-muscle-hypertrophy",
        "name": "Increased skeletal muscle cells",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-hypertrophy"
      },
      {
        "slug": "increased-variability-in-muscle-fiber-diameter",
        "name": "Increased variability in muscle fiber diameter",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-variability-in-muscle-fiber-diameter"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-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"
        ],
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "myoclonus",
        "name": "Jerking",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/myoclonus"
      },
      {
        "slug": "constriction-of-peripheral-visual-field",
        "name": "Limited peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/constriction-of-peripheral-visual-field"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "peripheral-visual-field-loss",
        "name": "Loss of peripheral vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripheral-visual-field-loss"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "meningocele",
        "name": "Meningocele",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/meningocele"
      },
      {
        "slug": "metatarsus-valgus",
        "name": "Metatarsus valgus",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metatarsus-valgus"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "muscular-dystrophy",
        "name": "Muscular dystrophy",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/muscular-dystrophy"
      },
      {
        "slug": "attenuation-of-retinal-blood-vessels",
        "name": "Narrowing of blood vessels in back of eye",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels"
      },
      {
        "slug": "coloboma",
        "name": "Notched pupil",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coloboma"
      },
      {
        "slug": "olivopontocerebellar-hypoplasia",
        "name": "Olivopontocerebellar hypoplasia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/olivopontocerebellar-hypoplasia"
      },
      {
        "slug": "opacification-of-the-corneal-stroma",
        "name": "Opacification of the corneal stroma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "optic-disc-drusen",
        "name": "Optic disc drusen",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-drusen"
      },
      {
        "slug": "optic-disc-pallor",
        "name": "Optic disc pallor",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-disc-pallor"
      },
      {
        "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": "abnormal-optic-nerve-morphology",
        "name": "Optic nerve issue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-optic-nerve-morphology"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "hemiplegia-hemiparesis",
        "name": "Paralysis or weakness of one side of body",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis"
      },
      {
        "slug": "peripapillary-atrophy",
        "name": "Peripapillary atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/peripapillary-atrophy"
      },
      {
        "slug": "photopsia",
        "name": "Photopsia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/photopsia"
      },
      {
        "slug": "photoreceptor-outer-segment-loss-on-macular-oct",
        "name": "Photoreceptor outer segment loss on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photoreceptor-outer-segment-loss-on-macular-oct"
      },
      {
        "slug": "posterior-subcapsular-cataract",
        "name": "Posterior subcapsular cataract",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posterior-subcapsular-cataract"
      },
      {
        "slug": "progressive-night-blindness",
        "name": "Progressive night blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/progressive-night-blindness"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "hyperlordosis",
        "name": "Prominent swayback",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperlordosis"
      },
      {
        "slug": "proximal-muscle-weakness",
        "name": "Proximal neurogenic muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/proximal-muscle-weakness"
      },
      {
        "slug": "reduced-muscle-fiber-alpha-dystroglycan",
        "name": "Reduced muscle fiber alpha dystroglycan",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/reduced-muscle-fiber-alpha-dystroglycan"
      },
      {
        "slug": "retinal-degeneration",
        "name": "Retina degeneration",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-degeneration"
      },
      {
        "slug": "retinal-atrophy",
        "name": "Retinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/retinal-atrophy"
      },
      {
        "slug": "retinal-detachment",
        "name": "Retinal detachment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-detachment"
      },
      {
        "slug": "retinal-dysplasia",
        "name": "Retinal dysplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-dysplasia"
      },
      {
        "slug": "retinal-thinning-on-oct",
        "name": "Retinal thinning",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-thinning-on-oct"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "severe-muscular-hypotonia",
        "name": "Severely decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/severe-muscular-hypotonia"
      },
      {
        "slug": "short-nasal-bridge",
        "name": "Short nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-nasal-bridge"
      },
      {
        "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": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "spicular-pigmentation-of-the-retina",
        "name": "Spicular pigmentation of the retina",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina"
      },
      {
        "slug": "submucous-cleft-hard-palate",
        "name": "Submucous cleft hard palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/submucous-cleft-hard-palate"
      },
      {
        "slug": "tigroid-fundus",
        "name": "Tigroid fundus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tigroid-fundus"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "type-ii-lissencephaly",
        "name": "Type II lissencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/type-ii-lissencephaly"
      },
      {
        "slug": "uncontrolled-eye-movements",
        "name": "Uncontrolled eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/uncontrolled-eye-movements"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "undetectable-electroretinogram",
        "name": "Undetectable electroretinogram",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/undetectable-electroretinogram"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "malar-flattening",
        "name": "Zygomatic flattening",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/malar-flattening"
      }
    ],
    "related": [
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "name": "dystroglycan 1",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/dag1"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "name": "fukutin related protein",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/fktn"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "name": "GDP-mannose pyrophosphorylase B",
        "shared": 3,
        "url": "https://dantelabs.com/es/genes/gmppb"
      },
      {
        "slug": "col6a1",
        "symbol": "COL6A1",
        "name": "collagen type VI alpha 1 chain",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/col6a1"
      },
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "name": "collagen type VI alpha 2 chain",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/col6a2"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/col6a3"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/crppa"
      },
      {
        "slug": "dhdds",
        "symbol": "DHDDS",
        "name": "dehydrodolichyl diphosphate synthase subunit",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/dhdds"
      },
      {
        "slug": "dpm2",
        "symbol": "DPM2",
        "name": "dolichyl-phosphate mannosyltransferase subunit 2, regulatory",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/dpm2"
      },
      {
        "slug": "dpm3",
        "symbol": "DPM3",
        "name": "dolichyl-phosphate mannosyltransferase subunit 3, regulatory",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/dpm3"
      },
      {
        "slug": "lama2",
        "symbol": "LAMA2",
        "name": "laminin subunit alpha 2",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/lama2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}