{
  "url": "https://dantelabs.com/nl/genes/dag1",
  "gene": {
    "slug": "dag1",
    "symbol": "DAG1",
    "name": "dystroglycan 1",
    "hgnc": "HGNC:2666",
    "summary": null,
    "location": "3p21.31",
    "locusType": "gene with protein product",
    "aliases": [
      "A3a",
      "156DAG",
      "AGRNR",
      "DAG"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000173402",
    "entrezId": 1605,
    "omim": [
      "128239"
    ],
    "uniprot": [
      "Q14118"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "3",
      "start": 49470267,
      "end": 49535615,
      "strand": "+",
      "ensemblTranscript": "ENST00000308775.7",
      "refseqTranscript": "NM_004393.6",
      "ensemblProtein": "ENSP00000312435.2",
      "refseqProtein": "NP_004384.5",
      "exons": [
        {
          "start": 49470267,
          "end": 49470433
        },
        {
          "start": 49510419,
          "end": 49510819
        },
        {
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        }
      ],
      "cds": {
        "start": 49510535,
        "end": 49533199
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "3",
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      "end": 49573048,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
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      "genes": [
        {
          "symbol": "P4HTM",
          "ensemblId": "ENSG00000178467",
          "biotype": "protein_coding",
          "start": 48989858,
          "end": 49007153,
          "strand": "+",
          "slug": "p4htm"
        },
        {
          "symbol": "WDR6",
          "ensemblId": "ENSG00000178252",
          "biotype": "protein_coding",
          "start": 49007062,
          "end": 49015953,
          "strand": "+",
          "slug": "wdr6"
        },
        {
          "symbol": "DALRD3",
          "ensemblId": "ENSG00000178149",
          "biotype": "protein_coding",
          "start": 49015474,
          "end": 49022293,
          "strand": "-",
          "slug": "dalrd3"
        },
        {
          "symbol": "NDUFAF3",
          "ensemblId": "ENSG00000178057",
          "biotype": "protein_coding",
          "start": 49020459,
          "end": 49027593,
          "strand": "+",
          "slug": "ndufaf3"
        },
        {
          "symbol": "IMPDH2",
          "ensemblId": "ENSG00000178035",
          "biotype": "protein_coding",
          "start": 49024315,
          "end": 49029452,
          "strand": "-",
          "slug": "impdh2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000290315",
          "biotype": "protein_coding",
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          "end": 49094071,
          "strand": "-"
        },
        {
          "symbol": "QRICH1",
          "ensemblId": "ENSG00000198218",
          "biotype": "protein_coding",
          "start": 49029700,
          "end": 49094545,
          "strand": "-",
          "slug": "qrich1"
        },
        {
          "symbol": "QARS1",
          "ensemblId": "ENSG00000172053",
          "biotype": "protein_coding",
          "start": 49095932,
          "end": 49105130,
          "strand": "-",
          "slug": "qars1"
        },
        {
          "symbol": "USP19",
          "ensemblId": "ENSG00000172046",
          "biotype": "protein_coding",
          "start": 49105758,
          "end": 49120940,
          "strand": "-",
          "slug": "usp19"
        },
        {
          "symbol": "LAMB2",
          "ensemblId": "ENSG00000172037",
          "biotype": "protein_coding",
          "start": 49121113,
          "end": 49133118,
          "strand": "-",
          "slug": "lamb2"
        },
        {
          "symbol": "CCDC71",
          "ensemblId": "ENSG00000177352",
          "biotype": "protein_coding",
          "start": 49161063,
          "end": 49166357,
          "strand": "-",
          "slug": "ccdc71"
        },
        {
          "symbol": "KLHDC8B",
          "ensemblId": "ENSG00000185909",
          "biotype": "protein_coding",
          "start": 49171239,
          "end": 49176487,
          "strand": "+",
          "slug": "klhdc8b"
        },
        {
          "symbol": "CIMIP7",
          "ensemblId": "ENSG00000236980",
          "biotype": "protein_coding",
          "start": 49177634,
          "end": 49191858,
          "strand": "-",
          "slug": "cimip7"
        },
        {
          "symbol": "IHO1",
          "ensemblId": "ENSG00000173421",
          "biotype": "protein_coding",
          "start": 49198428,
          "end": 49277629,
          "strand": "+",
          "slug": "iho1"
        },
        {
          "symbol": "C3orf62",
          "ensemblId": "ENSG00000188315",
          "biotype": "protein_coding",
          "start": 49268596,
          "end": 49277236,
          "strand": "-",
          "slug": "c3orf62"
        },
        {
          "symbol": "USP4",
          "ensemblId": "ENSG00000114316",
          "biotype": "protein_coding",
          "start": 49277144,
          "end": 49340712,
          "strand": "-",
          "slug": "usp4"
        },
        {
          "symbol": "GPX1",
          "ensemblId": "ENSG00000233276",
          "biotype": "protein_coding",
          "start": 49357174,
          "end": 49358605,
          "strand": "-",
          "slug": "gpx1"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000290318",
          "biotype": "protein_coding",
          "start": 49357176,
          "end": 49412051,
          "strand": "-"
        },
        {
          "symbol": "RHOA",
          "ensemblId": "ENSG00000067560",
          "biotype": "protein_coding",
          "start": 49359136,
          "end": 49412998,
          "strand": "-",
          "slug": "rhoa"
        },
        {
          "symbol": "TCTA",
          "ensemblId": "ENSG00000145022",
          "biotype": "protein_coding",
          "start": 49412212,
          "end": 49455826,
          "strand": "+",
          "slug": "tcta"
        },
        {
          "symbol": "AMT",
          "ensemblId": "ENSG00000145020",
          "biotype": "protein_coding",
          "start": 49416771,
          "end": 49422685,
          "strand": "-",
          "slug": "amt"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000283189",
          "biotype": "protein_coding",
          "start": 49416777,
          "end": 49429314,
          "strand": "-"
        },
        {
          "symbol": "NICN1",
          "ensemblId": "ENSG00000145029",
          "biotype": "protein_coding",
          "start": 49422333,
          "end": 49429331,
          "strand": "-",
          "slug": "nicn1"
        },
        {
          "symbol": "BSN",
          "ensemblId": "ENSG00000164061",
          "biotype": "protein_coding",
          "start": 49554477,
          "end": 49671549,
          "strand": "+",
          "slug": "bsn"
        },
        {
          "symbol": "APEH",
          "ensemblId": "ENSG00000164062",
          "biotype": "protein_coding",
          "start": 49673818,
          "end": 49683973,
          "strand": "+",
          "slug": "apeh"
        },
        {
          "symbol": "MST1",
          "ensemblId": "ENSG00000173531",
          "biotype": "protein_coding",
          "start": 49683922,
          "end": 49689501,
          "strand": "-",
          "slug": "mst1"
        },
        {
          "symbol": "RNF123",
          "ensemblId": "ENSG00000164068",
          "biotype": "protein_coding",
          "start": 49688740,
          "end": 49723389,
          "strand": "+",
          "slug": "rnf123"
        },
        {
          "symbol": "AMIGO3",
          "ensemblId": "ENSG00000176020",
          "biotype": "protein_coding",
          "start": 49716829,
          "end": 49719684,
          "strand": "-",
          "slug": "amigo3"
        },
        {
          "symbol": "GMPPB",
          "ensemblId": "ENSG00000173540",
          "biotype": "protein_coding",
          "start": 49716844,
          "end": 49723988,
          "strand": "-",
          "slug": "gmppb"
        },
        {
          "symbol": "IP6K1",
          "ensemblId": "ENSG00000176095",
          "biotype": "protein_coding",
          "start": 49724294,
          "end": 49786557,
          "strand": "-",
          "slug": "ip6k1"
        },
        {
          "symbol": "CDHR4",
          "ensemblId": "ENSG00000187492",
          "biotype": "protein_coding",
          "start": 49790732,
          "end": 49799879,
          "strand": "-",
          "slug": "cdhr4"
        },
        {
          "symbol": "INKA1",
          "ensemblId": "ENSG00000185614",
          "biotype": "protein_coding",
          "start": 49803228,
          "end": 49805237,
          "strand": "+",
          "slug": "inka1"
        },
        {
          "symbol": "UBA7",
          "ensemblId": "ENSG00000182179",
          "biotype": "protein_coding",
          "start": 49805205,
          "end": 49814151,
          "strand": "-",
          "slug": "uba7"
        },
        {
          "symbol": "TRAIP",
          "ensemblId": "ENSG00000183763",
          "biotype": "protein_coding",
          "start": 49828595,
          "end": 49856597,
          "strand": "-",
          "slug": "traip"
        },
        {
          "symbol": "CAMKV",
          "ensemblId": "ENSG00000164076",
          "biotype": "protein_coding",
          "start": 49857214,
          "end": 49870064,
          "strand": "-",
          "slug": "camkv"
        },
        {
          "symbol": "MST1R",
          "ensemblId": "ENSG00000164078",
          "biotype": "protein_coding",
          "start": 49886902,
          "end": 49906130,
          "strand": "-",
          "slug": "mst1r"
        },
        {
          "symbol": "MON1A",
          "ensemblId": "ENSG00000164077",
          "biotype": "protein_coding",
          "start": 49907160,
          "end": 49930173,
          "strand": "-",
          "slug": "mon1a"
        },
        {
          "symbol": "RBM6",
          "ensemblId": "ENSG00000004534",
          "biotype": "protein_coding",
          "start": 49940007,
          "end": 50100045,
          "strand": "+",
          "slug": "rbm6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-muscular-dystrophies",
        "name": "Congenitale spierdystrofieën",
        "diseases": [
          {
            "mondoId": "MONDO:0019950",
            "name": "Congenitale spierdystrofie",
            "genes": 29,
            "inheritance": null,
            "description": "Een groep spierdystrofieën die bij de geboorte of in de zuigelingenperiode beginnen, waaronder dystroglycanopathieën (zoals vormen die verband houden met FKRP, FKTN en POMT1/2).",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/congenital-muscular-dystrophies"
      },
      {
        "slug": "disorder-of-glycosylation",
        "name": "Congenitale glycosylatiestoornissen",
        "diseases": [
          {
            "mondoId": "MONDO:0018282",
            "name": "Alfa-dystroglycanopathieën",
            "genes": 7,
            "inheritance": "autosomal-recessive",
            "description": "Spierziekten veroorzaakt door een gestoorde suikerhechting (O-mannosylering) aan alfa-dystroglycaan, variërend van ernstige congenitale spierdystrofie met betrokkenheid van hersenen en ogen tot mildere zwakte van de schouder- en heupgordel. Ze worden ook uitgebreider beschreven in het rapport over congenitale spierdystrofieën.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          },
          {
            "mondoId": "MONDO:0015286",
            "name": "Congenitale glycosylatiestoornissen (CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "Een grote groep erfelijke aandoeningen waarbij suikerketens (glycanen) niet correct worden opgebouwd of aan eiwitten en lipiden worden gehecht, wat vaak gevolgen heeft voor de hersenen, de lever, de bloedstolling, de groei en veel andere lichaamssystemen. De meeste zijn autosomaal recessief, maar sommige zijn X-gebonden of autosomaal dominant.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/disorder-of-glycosylation"
      },
      {
        "slug": "limb-girdle-muscular-dystrophy",
        "name": "Gordelspierdystrofie",
        "diseases": [
          {
            "mondoId": "MONDO:0016971",
            "name": "Gordelspierdystrofie",
            "genes": 33,
            "inheritance": null,
            "description": "Gordelspierdystrofie wordt gedefinieerd als een verzameling van talrijke subtypen met verschillende overervingspatronen (waarbij ook de mate waarin een diagnose met zekerheid kan worden gesteld, varieert). Dragers van varianten die verband houden met deze aandoening dienen advies in te winnen bij een specialist in de spier- en skeletaandoeningen voor een definitieve diagnose.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Genomics England PanelApp"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/nl/conditions/limb-girdle-muscular-dystrophy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "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": "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": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "gait-disturbance",
        "name": "Abnormal gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "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-pons-morphology",
        "name": "Abnormal pons morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-pons-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": "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": "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": "occasional",
        "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": "absent-speech",
        "name": "Absent speech development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "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": "agyria",
        "name": "Agyria",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/agyria"
      },
      {
        "slug": "ankle-flexion-contracture",
        "name": "Ankle flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ankle-flexion-contracture"
      },
      {
        "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": "retinal-dystrophy",
        "name": "Breakdown of light-sensitive cells in back of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/retinal-dystrophy"
      },
      {
        "slug": "calf-muscle-pseudohypertrophy",
        "name": "Calf muscle pseudohypertrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "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": "frequent",
        "url": "https://dantelabs.com/traits/cerebellar-cyst"
      },
      {
        "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": "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": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "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": "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": "floppy-infant",
        "name": "Decreased muscle tone in infant",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/floppy-infant"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "delayed-ability-to-sit",
        "name": "Delayed ability to sit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-ability-to-sit"
      },
      {
        "slug": "delayed-ability-to-walk",
        "name": "Delayed ability to walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/delayed-ability-to-walk"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "difficulty-climbing-stairs",
        "name": "Difficulty walking up stairs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/difficulty-climbing-stairs"
      },
      {
        "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-with-focal-spike-waves",
        "name": "EEG with focal spike waves",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eeg-with-focal-spike-waves"
      },
      {
        "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": "elevated-creatine-kinase-after-exercise",
        "name": "Elevated creatine kinase after exercise",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-creatine-kinase-after-exercise"
      },
      {
        "slug": "buphthalmos",
        "name": "Enlarged eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/buphthalmos"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "lumbar-hyperlordosis",
        "name": "Excessive inward curvature of lower spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lumbar-hyperlordosis"
      },
      {
        "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": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "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": "occasional",
        "url": "https://dantelabs.com/traits/gowers-sign"
      },
      {
        "slug": "hypoglycosylation-of-alpha-dystroglycan",
        "name": "Hypoglycosylation of alpha-dystroglycan",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoglycosylation-of-alpha-dystroglycan"
      },
      {
        "slug": "calf-muscle-hypertrophy",
        "name": "Increased size of calf muscles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/calf-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": "obligate",
        "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"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "leukodystrophy",
        "name": "Leukodystrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/leukodystrophy"
      },
      {
        "slug": "limb-girdle-muscle-weakness",
        "name": "Limb-girdle muscle weakness",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-girdle-muscle-weakness"
      },
      {
        "slug": "limb-girdle-muscular-dystrophy",
        "name": "Limb-girdle muscular dystrophy",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limb-girdle-muscular-dystrophy"
      },
      {
        "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": "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": "polymicrogyria",
        "name": "More grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/polymicrogyria"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "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"
        ],
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/muscular-dystrophy"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "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": "poor-head-control",
        "name": "Poor head control",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/poor-head-control"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "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": "respiratory-failure",
        "name": "Respiratory failure",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/respiratory-failure"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/retinal-dysplasia"
      },
      {
        "slug": "severe-global-developmental-delay",
        "name": "Severe global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-global-developmental-delay"
      },
      {
        "slug": "high-myopia",
        "name": "Severe near sightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/high-myopia"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "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": "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": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "hypoplasia-of-penis",
        "name": "Underdeveloped penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-penis"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "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": "unsteady-gait",
        "name": "Unsteady walk",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/unsteady-gait"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "waddling-gait",
        "name": "Waddling gait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/waddling-gait"
      }
    ],
    "related": [
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "name": "fukutin related protein",
        "shared": 4,
        "url": "https://dantelabs.com/nl/genes/fkrp"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "name": "fukutin",
        "shared": 4,
        "url": "https://dantelabs.com/nl/genes/fktn"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "name": "GDP-mannose pyrophosphorylase B",
        "shared": 4,
        "url": "https://dantelabs.com/nl/genes/gmppb"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/crppa"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/pomgnt1"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "name": "protein O-mannosyltransferase 1",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "name": "protein O-mannosyltransferase 2",
        "shared": 3,
        "url": "https://dantelabs.com/nl/genes/pomt2"
      },
      {
        "slug": "col6a1",
        "symbol": "COL6A1",
        "name": "collagen type VI alpha 1 chain",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/col6a1"
      },
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "name": "collagen type VI alpha 2 chain",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/col6a2"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "name": "collagen type VI alpha 3 chain",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/col6a3"
      },
      {
        "slug": "dpm2",
        "symbol": "DPM2",
        "name": "dolichyl-phosphate mannosyltransferase subunit 2, regulatory",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/dpm2"
      },
      {
        "slug": "dpm3",
        "symbol": "DPM3",
        "name": "dolichyl-phosphate mannosyltransferase subunit 3, regulatory",
        "shared": 2,
        "url": "https://dantelabs.com/nl/genes/dpm3"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}