{
  "url": "https://dantelabs.com/fi/genes/nde1",
  "gene": {
    "slug": "nde1",
    "symbol": "NDE1",
    "name": "nudE neurodevelopment protein 1",
    "hgnc": "HGNC:17619",
    "summary": null,
    "location": "16p13.11",
    "locusType": "gene with protein product",
    "aliases": [
      "nudE",
      "FLJ20101",
      "NDE"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000072864",
    "entrezId": 54820,
    "omim": [
      "609449"
    ],
    "uniprot": [
      "Q9NXR1"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 15650245,
      "end": 15726353,
      "strand": "+",
      "ensemblTranscript": "ENST00000396354.6",
      "refseqTranscript": "NM_017668.3",
      "ensemblProtein": "ENSP00000379642.1",
      "refseqProtein": "NP_060138.1",
      "exons": [
        {
          "start": 15650245,
          "end": 15650294
        },
        {
          "start": 15664736,
          "end": 15664861
        },
        {
          "start": 15667286,
          "end": 15667439
        },
        {
          "start": 15677801,
          "end": 15677949
        },
        {
          "start": 15687375,
          "end": 15687511
        },
        {
          "start": 15691144,
          "end": 15691323
        },
        {
          "start": 15694165,
          "end": 15694256
        },
        {
          "start": 15696709,
          "end": 15696860
        },
        {
          "start": 15724191,
          "end": 15726353
        }
      ],
      "cds": {
        "start": 15664779,
        "end": 15724251
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 15737124,
      "end": 15820210,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 15188299,
      "end": 16188298,
      "genes": [
        {
          "symbol": "NPIPA5",
          "ensemblId": "ENSG00000183793",
          "biotype": "protein_coding",
          "start": 15363628,
          "end": 15381047,
          "strand": "-",
          "slug": "npipa5"
        },
        {
          "symbol": "MPV17L",
          "ensemblId": "ENSG00000156968",
          "biotype": "protein_coding",
          "start": 15395747,
          "end": 15413271,
          "strand": "+",
          "slug": "mpv17l"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000261130",
          "biotype": "protein_coding",
          "start": 15395754,
          "end": 15515348,
          "strand": "+"
        },
        {
          "symbol": "BMERB1",
          "ensemblId": "ENSG00000166780",
          "biotype": "protein_coding",
          "start": 15434475,
          "end": 15625028,
          "strand": "+",
          "slug": "bmerb1"
        },
        {
          "symbol": "MARF1",
          "ensemblId": "ENSG00000166783",
          "biotype": "protein_coding",
          "start": 15594302,
          "end": 15643209,
          "strand": "-",
          "slug": "marf1"
        },
        {
          "symbol": "MYH11",
          "ensemblId": "ENSG00000133392",
          "biotype": "protein_coding",
          "start": 15703135,
          "end": 15858438,
          "strand": "-",
          "slug": "myh11"
        },
        {
          "symbol": "CEP20",
          "ensemblId": "ENSG00000133393",
          "biotype": "protein_coding",
          "start": 15865719,
          "end": 15888644,
          "strand": "-",
          "slug": "cep20"
        },
        {
          "symbol": "ABCC1",
          "ensemblId": "ENSG00000103222",
          "biotype": "protein_coding",
          "start": 15949138,
          "end": 16143257,
          "strand": "+",
          "slug": "abcc1"
        },
        {
          "symbol": "ABCC6",
          "ensemblId": "ENSG00000091262",
          "biotype": "protein_coding",
          "start": 16149565,
          "end": 16223637,
          "strand": "-",
          "slug": "abcc6"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "lissencephaly-spectrum-disorders",
        "name": "Lissencefalia-spektrin häiriöt",
        "diseases": [
          {
            "mondoId": "MONDO:0018838",
            "name": "Lissencefalia-spektrin häiriöt",
            "genes": 23,
            "inheritance": null,
            "description": "Aiheutuu geeneistä, jotka säätelevät hermosolujen siirtymistä oikeisiin paikkoihin kehittyvässä aivossa. Tämä raportti sisältää DCX-geenin X-kromosomissa ja APC2-geenin (resessiivinen).",
            "management": "Hoito keskittyy kohtausten hallintaan, syömiseen ja ravitsemukseen, fysioterapiaan ja kehityksen tukemiseen. Geneettinen neuvonta riippuu geenistä: dominantit muutokset ovat usein de novo -muutoksia, DCX voi periytyä kantajaäidiltä, ja resessiiviset muodot periytyvät kahdelta kantajavanhemmalta.",
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/lissencephaly-spectrum-disorders"
      },
      {
        "slug": "microlissencephaly-nde1",
        "name": "NDE1-liittyvä mikrolissenkefalia",
        "diseases": [
          {
            "mondoId": "MONDO:0700116",
            "name": "Mikrokefalia, johon liittyy lissenkefalia ja/tai hydranenkefalia",
            "genes": 1,
            "inheritance": "autosomal-recessive",
            "description": "Sen aiheuttavat muutokset molemmissa NDE1-geenin kopioissa. Geeni on tarpeen solujen jakautumiseen kehittyvissä aivoissa. Toiminnan menetys häiritsee aivojen esisolujen lisääntymistä.",
            "management": "Hoito on oireenmukaista: kohtauslääkitys, ruokinnan tuki, fysioterapia ja tarvittaessa palliatiivinen hoito. Geneettinen neuvonta selittää perimän resessiivisen periytymisen, ja perheille on saatavilla kantajuus- ja synnytystä edeltävä testaus.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Laboratory for Molecular Medicine",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/fi/conditions/microlissencephaly-nde1"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "4-layered-lissencephaly",
        "name": "4-layered lissencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/4-layered-lissencephaly"
      },
      {
        "slug": "abnormal-corpus-striatum-morphology",
        "name": "Abnormal corpus striatum morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-corpus-striatum-morphology"
      },
      {
        "slug": "cerebral-calcification",
        "name": "Abnormal deposits of calcium in the brain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-calcification"
      },
      {
        "slug": "abnormal-dura-mater-morphology",
        "name": "Abnormal dura mater morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-dura-mater-morphology"
      },
      {
        "slug": "abnormal-facial-shape",
        "name": "Abnormal facial shape",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-facial-shape"
      },
      {
        "slug": "abnormal-fontanelle-morphology",
        "name": "Abnormal fontanelle morphology",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-fontanelle-morphology"
      },
      {
        "slug": "abnormal-internal-carotid-artery-morphology",
        "name": "Abnormal internal carotid artery morphology",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-internal-carotid-artery-morphology"
      },
      {
        "slug": "abnormal-muscle-tone",
        "name": "Abnormal muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-muscle-tone"
      },
      {
        "slug": "abnormal-cerebral-artery-morphology",
        "name": "Abnormality of cerebral artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-cerebral-artery-morphology"
      },
      {
        "slug": "abnormal-calvaria-morphology",
        "name": "Abnormality of cranium",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-calvaria-morphology"
      },
      {
        "slug": "abnormality-of-neuronal-migration",
        "name": "Abnormality of neuronal migration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration"
      },
      {
        "slug": "hypotelorism",
        "name": "Abnormally close eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotelorism"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "antenatal-intracerebral-hemorrhage",
        "name": "Antenatal intracerebral hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/antenatal-intracerebral-hemorrhage"
      },
      {
        "slug": "atrophic-pituitary-gland",
        "name": "Atrophic pituitary gland",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrophic-pituitary-gland"
      },
      {
        "slug": "babinski-sign",
        "name": "Babinski sign",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/babinski-sign"
      },
      {
        "slug": "blindness",
        "name": "Blindness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/blindness"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "chorioretinal-atrophy",
        "name": "Chorioretinal atrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chorioretinal-atrophy"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "colpocephaly",
        "name": "Colpocephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/colpocephaly"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "generalized-amyotrophy",
        "name": "Diffuse skeletal muscle wasting",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-amyotrophy"
      },
      {
        "slug": "dilatation-of-the-ventricular-cavity",
        "name": "Dilatation of the ventricular cavity",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dilatation-of-the-ventricular-cavity"
      },
      {
        "slug": "dysgenesis-of-the-thalamus",
        "name": "Dysgenesis of the thalamus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dysgenesis-of-the-thalamus"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "pachygyria",
        "name": "Fewer and broader ridges in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/pachygyria"
      },
      {
        "slug": "lissencephaly",
        "name": "Fewer or absent grooves in brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lissencephaly"
      },
      {
        "slug": "cutis-gyrata-of-scalp",
        "name": "Furrows in thickened skin on top of scalp",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cutis-gyrata-of-scalp"
      },
      {
        "slug": "generalized-myoclonic-seizure",
        "name": "Generalized myoclonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hydranencephaly",
        "name": "Hydranencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hydranencephaly"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "infantile-sensorineural-hearing-impairment",
        "name": "Infantile sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/infantile-sensorineural-hearing-impairment"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "athetosis",
        "name": "Involuntary writhing movements in fingers, hands, toes, and feet",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/athetosis"
      },
      {
        "slug": "adducted-thumb",
        "name": "Inward turned thumb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/adducted-thumb"
      },
      {
        "slug": "profound-intellectual-disability",
        "name": "IQ less than 20",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/profound-intellectual-disability"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "dolichocephaly",
        "name": "Long, narrow head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dolichocephaly"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "meningitis",
        "name": "Meningitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/meningitis"
      },
      {
        "slug": "microlissencephaly",
        "name": "Microlissencephaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microlissencephaly"
      },
      {
        "slug": "multiple-joint-contractures",
        "name": "Multiple joint contractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/multiple-joint-contractures"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "narrow-forehead",
        "name": "Narrow forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/narrow-forehead"
      },
      {
        "slug": "opisthotonus",
        "name": "Opisthotonus",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/opisthotonus"
      },
      {
        "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": "patent-foramen-ovale",
        "name": "Patent foramen ovale",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/patent-foramen-ovale"
      },
      {
        "slug": "reduced-eye-contact",
        "name": "Poor eye contact",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-eye-contact"
      },
      {
        "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": "dysphagia",
        "name": "Poor swallowing",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dysphagia"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "profound-global-developmental-delay",
        "name": "Profound global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/profound-global-developmental-delay"
      },
      {
        "slug": "prominent-occiput",
        "name": "Prominent back of the head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-occiput"
      },
      {
        "slug": "prominent-nasal-bridge",
        "name": "Prominent nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prominent-nasal-bridge"
      },
      {
        "slug": "abnormal-retinal-morphology",
        "name": "Retina issue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-retinal-morphology"
      },
      {
        "slug": "rocker-bottom-foot",
        "name": "Rocker bottom foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/rocker-bottom-foot"
      },
      {
        "slug": "self-mutilation",
        "name": "Self-mutilation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/self-mutilation"
      },
      {
        "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": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "simplified-gyral-pattern",
        "name": "Simplified gyral pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/simplified-gyral-pattern"
      },
      {
        "slug": "sloping-forehead",
        "name": "Sloping forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sloping-forehead"
      },
      {
        "slug": "hypoplasia-of-the-brainstem",
        "name": "Small brainstem",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-brainstem"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "small-forehead",
        "name": "Small forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/small-forehead"
      },
      {
        "slug": "primary-microcephaly",
        "name": "Small head present at birth",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/primary-microcephaly"
      },
      {
        "slug": "hypoplastic-hippocampus",
        "name": "Small hippocampus",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-hippocampus"
      },
      {
        "slug": "microretrognathia",
        "name": "Small retruded chin",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microretrognathia"
      },
      {
        "slug": "spastic-diplegia",
        "name": "Spastic diplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/spastic-diplegia"
      },
      {
        "slug": "spastic-tetraplegia",
        "name": "Spastic tetraplegia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/spastic-tetraplegia"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "stiff-neck",
        "name": "Stiff neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/stiff-neck"
      },
      {
        "slug": "thalamic-edema",
        "name": "Thalamic edema",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thalamic-edema"
      },
      {
        "slug": "hypoplastic-spleen",
        "name": "Underdeveloped spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplastic-spleen"
      },
      {
        "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": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "wide-nose",
        "name": "Wide nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-nose"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "actb",
        "symbol": "ACTB",
        "name": "actin beta",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/actb"
      },
      {
        "slug": "actg1",
        "symbol": "ACTG1",
        "name": "actin gamma 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/actg1"
      },
      {
        "slug": "apc2",
        "symbol": "APC2",
        "name": "APC regulator of Wnt signaling pathway 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/apc2"
      },
      {
        "slug": "arx",
        "symbol": "ARX",
        "name": "aristaless related homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/arx"
      },
      {
        "slug": "cdk5",
        "symbol": "CDK5",
        "name": "cyclin dependent kinase 5",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cdk5"
      },
      {
        "slug": "cep85l",
        "symbol": "CEP85L",
        "name": "centrosomal protein 85L",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/cep85l"
      },
      {
        "slug": "ctnna2",
        "symbol": "CTNNA2",
        "name": "catenin alpha 2",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/ctnna2"
      },
      {
        "slug": "dcx",
        "symbol": "DCX",
        "name": "doublecortin",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/dcx"
      },
      {
        "slug": "katnb1",
        "symbol": "KATNB1",
        "name": "katanin regulatory subunit B1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/katnb1"
      },
      {
        "slug": "lamb1",
        "symbol": "LAMB1",
        "name": "laminin subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/lamb1"
      },
      {
        "slug": "macf1",
        "symbol": "MACF1",
        "name": "microtubule actin crosslinking factor 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/macf1"
      },
      {
        "slug": "pafah1b1",
        "symbol": "PAFAH1B1",
        "name": "platelet activating factor acetylhydrolase 1b regulatory subunit 1",
        "shared": 1,
        "url": "https://dantelabs.com/fi/genes/pafah1b1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}