{
  "url": "https://dantelabs.com/es/genes/frmpd4",
  "gene": {
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    "symbol": "FRMPD4",
    "name": "FERM and PDZ domain containing 4",
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      "strand": "+"
    },
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        {
          "symbol": "TLR7",
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        {
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      ],
      "truncated": false
    },
    "reports": [
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        "slug": "epilepsy-report",
        "name": "Epilepsia (panel completo)",
        "diseases": [
          {
            "mondoId": "MONDO:0100148",
            "name": "Trastorno del neurodesarrollo complejo ligado al cromosoma X",
            "genes": 25,
            "inheritance": null,
            "description": "Un trastorno complejo del neurodesarrollo con un patrón de herencia ligado al cromosoma X, caracterizado por discapacidad intelectual, autismo y epilepsia.",
            "management": null,
            "evidence": {
              "gencc": [
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              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
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            "broad": false
          }
        ],
        "url": "https://dantelabs.com/es/conditions/epilepsy-report"
      },
      {
        "slug": "intellectual-disability",
        "name": "Discapacidad intelectual",
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            "mondoId": "MONDO:0001071",
            "name": "discapacidad intelectual",
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            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
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                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
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              "acmgSf": false,
              "inheritance": []
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            "broad": true
          }
        ],
        "url": "https://dantelabs.com/es/conditions/intellectual-disability"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-pinna-morphology",
        "name": "Abnormally shaped ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pinna-morphology"
      },
      {
        "slug": "absent-speech",
        "name": "Absent speech development",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-speech"
      },
      {
        "slug": "aggressive-behavior",
        "name": "Aggressive behavior",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aggressive-behavior"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "autistic-behavior",
        "name": "Autism spectrum disorder",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/autistic-behavior"
      },
      {
        "slug": "bifid-nasal-tip",
        "name": "Cleft nasal tip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/bifid-nasal-tip"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "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-cns-myelination",
        "name": "Delayed CNS myelination",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-cns-myelination"
      },
      {
        "slug": "delayed-gross-motor-development",
        "name": "Delayed motor skills",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-gross-motor-development"
      },
      {
        "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": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "frontal-upsweep-of-hair",
        "name": "Frontal upsweep of hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frontal-upsweep-of-hair"
      },
      {
        "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": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "spasticity",
        "name": "Involuntary muscle stiffness, contraction, or spasm",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spasticity"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "optic-atrophy",
        "name": "Optic atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-atrophy"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "slug": "retrognathia",
        "name": "Receding chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retrognathia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      },
      {
        "slug": "trigonocephaly",
        "name": "Triangular head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/trigonocephaly"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      }
    ],
    "related": [
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/arhgef9"
      },
      {
        "slug": "clcn4",
        "symbol": "CLCN4",
        "name": "Cl-/H+ antiporter 4",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/clcn4"
      },
      {
        "slug": "cnksr2",
        "symbol": "CNKSR2",
        "name": "connector enhancer of kinase suppressor of Ras 2",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/cnksr2"
      },
      {
        "slug": "ftsj1",
        "symbol": "FTSJ1",
        "name": "FtsJ RNA 2'-O-methyltransferase 1",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/ftsj1"
      },
      {
        "slug": "gria3",
        "symbol": "GRIA3",
        "name": "glutamate ionotropic receptor AMPA type subunit 3",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/gria3"
      },
      {
        "slug": "hnrnph2",
        "symbol": "HNRNPH2",
        "name": "heterogeneous nuclear ribonucleoprotein H2",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/hnrnph2"
      },
      {
        "slug": "il1rapl1",
        "symbol": "IL1RAPL1",
        "name": "interleukin 1 receptor accessory protein like 1",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/il1rapl1"
      },
      {
        "slug": "iqsec2",
        "symbol": "IQSEC2",
        "name": "IQ motif and Sec7 domain ArfGEF 2",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/iqsec2"
      },
      {
        "slug": "kdm5c",
        "symbol": "KDM5C",
        "name": "lysine demethylase 5C",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/kdm5c"
      },
      {
        "slug": "nexmif",
        "symbol": "NEXMIF",
        "name": "neurite extension and migration factor",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/nexmif"
      },
      {
        "slug": "pak3",
        "symbol": "PAK3",
        "name": "p21 (RAC1) activated kinase 3",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/pak3"
      },
      {
        "slug": "pcdh19",
        "symbol": "PCDH19",
        "name": "protocadherin 19",
        "shared": 2,
        "url": "https://dantelabs.com/es/genes/pcdh19"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}