{ "url": "https://dantelabs.com/pl/genes/gli2", "gene": { "slug": "gli2", "symbol": "GLI2", "name": "GLI family zinc finger 2", "hgnc": "HGNC:4318", "summary": null, "location": "2q14.2", "locusType": "gene with protein product", "aliases": [ "THP2", "HPE9", "THP1" ], "previousSymbols": [], "ensemblId": "ENSG00000074047", "entrezId": 2736, "omim": [ "165230" ], "uniprot": [ "P10070" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 120735868, "end": 120992653, "strand": "+", "ensemblTranscript": "ENST00000361492.9", "refseqTranscript": "NM_001374353.1", "ensemblProtein": "ENSP00000354586.5", "refseqProtein": "NP_001361282.1", "exons": [ { "start": 120735868, "end": 120736285 }, { "start": 120797291, "end": 120797468 }, { "start": 120927361, "end": 120927466 }, { "start": 120951243, "end": 120951445 }, { "start": 120955245, "end": 120955430 }, { "start": 120968714, "end": 120968915 }, { "start": 120970393, "end": 120970606 }, { "start": 120971941, "end": 120972063 }, { "start": 120974975, "end": 120975109 }, { "start": 120978434, "end": 120978583 }, { "start": 120982716, "end": 120982880 }, { "start": 120984471, "end": 120984743 }, { "start": 120986278, "end": 120986614 }, { "start": 120988208, "end": 120992653 } ], "cds": { "start": 120797321, "end": 120990675 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 121493199, "end": 121750229, "strand": "+" }, "neighbourhood": { "release": "116", "start": 120364261, "end": 121364260, "genes": [ { "symbol": "TFCP2L1", "ensemblId": "ENSG00000115112", "biotype": "protein_coding", "start": 121216587, "end": 121285263, "strand": "-", "slug": "tfcp2l1" }, { "symbol": "CLASP1", "ensemblId": "ENSG00000074054", "biotype": "protein_coding", "start": 121337776, "end": 121649599, "strand": "-", "slug": "clasp1" } ], "truncated": false }, "reports": [ { "slug": "non-acquired-combined-pituitary-hormone-deficiency", "name": "Wrodzony niedobór hormonów przysadki nienabyty (niedobór wielu hormonów przysadki)", "diseases": [ { "mondoId": "MONDO:0018762", "name": "Wrodzony niedobór hormonów przysadki nienabyty (niedobór wielu hormonów przysadki)", "genes": 15, "inheritance": null, "description": "Wrodzony niedoczynność przysadki charakteryzuje się niedoborem wielu hormonów przysadki, w tym niedoborem komórek wytwarzających hormon wzrostu (somatotrofów), tyreotropiny (tyreotrofów), prolaktyny (laktotrofów), kortykotropiny (kortykotrofów) lub gonadotropin (gonadotrofów). Przyczyną są mutacje czynników transkrypcyjnych przysadki zaangażowanych w jej rozwój embrionalny.", "management": null, "evidence": { "gencc": [ "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/non-acquired-combined-pituitary-hormone-deficiency" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "amenorrhea", "name": "Abnormal absence of menstruation", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/amenorrhea" }, { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormal-central-motor-function", "name": "Abnormal central motor function", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-central-motor-function" }, { "slug": "abnormal-corpus-callosum-morphology", "name": "Abnormal corpus callosum morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-corpus-callosum-morphology" }, { "slug": "abnormal-cortical-gyration", "name": "Abnormal cortical gyration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-cortical-gyration" }, { "slug": "abnormal-heart-rate-variability", "name": "Abnormal heart rate variability", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-heart-rate-variability" }, { "slug": "abnormal-hypothalamus-physiology", "name": "Abnormal hypothalamus physiology", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-hypothalamus-physiology" }, { "slug": "abnormal-morphology-of-the-olfactory-bulb", "name": "Abnormal morphology of the olfactory bulb", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-morphology-of-the-olfactory-bulb" }, { "slug": "abnormal-pattern-of-respiration", "name": "Abnormal pattern of respiration", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pattern-of-respiration" }, { "slug": "abnormal-prolactin-level", "name": "Abnormal prolactin level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-prolactin-level" }, { "slug": "abnormal-septum-pellucidum-morphology", "name": "Abnormal septum pellucidum morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-septum-pellucidum-morphology" }, { "slug": "abnormal-brainstem-morphology", "name": "Abnormal shape of brainstem", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-brainstem-morphology" }, { "slug": "abnormal-midbrain-morphology", "name": "Abnormal shape of midbrain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-midbrain-morphology" }, { "slug": "abnormal-gastrointestinal-tract-morphology", "name": "Abnormal shape of the digestive system", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-gastrointestinal-tract-morphology" }, { "slug": "abnormal-tsh-response-to-thyrotrophin-releasing-hormone-stimulation-test", "name": "Abnormal TSH response to thyrotrophin-releasing hormone stimulation test", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-tsh-response-to-thyrotrophin-releasing-hormone-stimulation-test" }, { "slug": "abnormal-vertebral-morphology", "name": "Abnormal vertebral morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-vertebral-morphology" }, { "slug": "abnormal-digit-morphology", "name": "Abnormality of fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-digit-morphology" }, { "slug": "abnormality-of-limbs", "name": "Abnormality of limbs", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-limbs" }, { "slug": "abnormality-of-secondary-sexual-hair", "name": "Abnormality of secondary sexual hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-secondary-sexual-hair" }, { "slug": "abnormality-of-the-autonomic-nervous-system", "name": "Abnormality of the autonomic nervous system", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-autonomic-nervous-system" }, { "slug": "abnormality-of-the-endocrine-system", "name": "Abnormality of the endocrine system", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-endocrine-system" }, { "slug": "abnormality-of-the-eye", "name": "Abnormality of the eye", "systems": [], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-eye" }, { "slug": "abnormality-of-the-genitourinary-system", "name": "Abnormality of the genitourinary system", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system" }, { "slug": "abnormal-heart-morphology", "name": "Abnormality of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-heart-morphology" }, { "slug": "abnormal-rib-morphology", "name": "Abnormality of the ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-rib-morphology" }, { "slug": "abnormality-of-the-skeletal-system", "name": "Abnormality of the skeletal system", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system" }, { "slug": "hypotelorism", "name": "Abnormally close eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotelorism" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "anophthalmia", "name": "Absence of eyeballs", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anophthalmia" }, { "slug": "agenesis-of-incisor", "name": "Absence of front tooth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/agenesis-of-incisor" }, { "slug": "absence-of-secondary-sex-characteristics", "name": "Absence of secondary sex characteristics", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absence-of-secondary-sex-characteristics" }, { "slug": "duodenal-atresia", "name": "Absence or narrowing of first part of small bowel", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/duodenal-atresia" }, { "slug": "renal-agenesis", "name": "Absent kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-agenesis" }, { "slug": "absent-lacrimal-punctum", "name": "Absent lacrimal punctum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-lacrimal-punctum" }, { "slug": "anterior-pituitary-agenesis", "name": "Absent pituitary gland", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anterior-pituitary-agenesis" }, { "slug": "absent-septum-pellucidum", "name": "Absent septum pellucidum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/absent-septum-pellucidum" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "aplasia-hypoplasia-of-the-breasts", "name": "Absent/small breasts", "systems": [ "abnormality-of-the-breast" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-breasts" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "adrenocorticotropic-hormone-deficiency", "name": "Adrenocorticotropic hormone deficiency", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/adrenocorticotropic-hormone-deficiency" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "alobar-holoprosencephaly", "name": "Alobar holoprosencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/alobar-holoprosencephaly" }, { "slug": "ambiguous-genitalia", "name": "Ambiguous external genitalia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ambiguous-genitalia" }, { "slug": "anterior-hypopituitarism", "name": "Anterior hypopituitarism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anterior-hypopituitarism" }, { "slug": "anteriorly-placed-anus", "name": "Anteriorly placed anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anteriorly-placed-anus" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "aplasia-of-the-falx-cerebri", "name": "Aplasia of the falx cerebri", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-of-the-falx-cerebri" }, { "slug": "aspiration-pneumonia", "name": "Aspiration pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aspiration-pneumonia" }, { "slug": "asthma", "name": "Asthma", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/asthma" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "dental-malocclusion", "name": "Bad bite", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dental-malocclusion" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "bifid-uvula", "name": "Bifid uvula", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bifid-uvula" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "bilateral-postaxial-polydactyly", "name": "Bilateral postaxial polydactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-postaxial-polydactyly" }, { "slug": "choanal-atresia", "name": "Blockage of the rear opening of the nasal cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/choanal-atresia" }, { "slug": "bilateral-cleft-lip", "name": "Both sided cleft lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-cleft-lip" }, { "slug": "broad-nasal-tip", "name": "Broad nasal tip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/broad-nasal-tip" }, { "slug": "iris-coloboma", "name": "Cat eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iris-coloboma" }, { "slug": "central-apnea", "name": "Central apnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/central-apnea" }, { "slug": "median-cleft-palate", "name": "Central cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/median-cleft-palate" }, { "slug": "median-cleft-upper-lip", "name": "Central cleft upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/median-cleft-upper-lip" }, { "slug": "central-diabetes-insipidus", "name": "Central diabetes insipidus", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/central-diabetes-insipidus" }, { "slug": "central-hypothyroidism", "name": "Central hypothyroidism", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/central-hypothyroidism" }, { "slug": "cerebral-visual-impairment", "name": "Cerebral visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-visual-impairment" }, { "slug": "chronic-lung-disease", "name": "Chronic lung disease", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-lung-disease" }, { "slug": "cleft-lip", "name": "Cleft lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cleft-lip" }, { "slug": "orofacial-cleft", "name": "Cleft of the mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/orofacial-cleft" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "cleft-upper-lip", "name": "Cleft upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-upper-lip" }, { "slug": "expressive-language-delay", "name": "Communication delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/expressive-language-delay" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "cyclopia", "name": "Cyclops eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cyclopia" }, { "slug": "decreased-circulating-acth-concentration", "name": "Decreased circulating ACTH concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-acth-concentration" }, { "slug": "decreased-circulating-follicle-stimulating-hormone-concentration", "name": "Decreased circulating follicle stimulating hormone concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-follicle-stimulating-hormone-concentration" }, { "slug": "decreased-circulating-free-t4-concentration", "name": "Decreased circulating free T4 concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-free-t4-concentration" }, { "slug": "decreased-circulating-insulin-like-growth-factor-1-concentration", "name": "Decreased circulating insulin-like growth factor 1 concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-insulin-like-growth-factor-1-concentration" }, { "slug": "decreased-circulating-luteinizing-hormone-level", "name": "Decreased circulating luteinizing hormone level", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-luteinizing-hormone-level" }, { "slug": "decreased-growth-hormone-responses-to-growth-hormone-releasing-hormone-challenge", "name": "Decreased growth hormone responses to growth hormone-releasing hormone challenge", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-growth-hormone-responses-to-growth-hormone-releasing-hormone-challenge" }, { "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": "decreased-response-to-growth-hormone-stimulation-test", "name": "Decreased response to growth hormone stimulation test", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-response-to-growth-hormone-stimulation-test" }, { "slug": "hypoplasia-of-the-maxilla", "name": "Decreased size of maxilla", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla" }, { "slug": "decreased-testicular-size", "name": "Decreased testicular size", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-testicular-size" }, { "slug": "decreased-thyroid-stimulating-hormone-level", "name": "Decreased thyroid-stimulating hormone level", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-thyroid-stimulating-hormone-level" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "delayed-puberty", "name": "Delayed puberty", "systems": [ "abnormality-of-the-endocrine-system", "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-puberty" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depression" }, { "slug": "diabetes-insipidus", "name": "Diabetes insipidus", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diabetes-insipidus" }, { "slug": "downturned-corners-of-mouth", "name": "Downturned corners of mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/downturned-corners-of-mouth" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "precocious-puberty", "name": "Early onset of puberty", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/precocious-puberty" }, { "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": "ectopic-anterior-pituitary-gland", "name": "Ectopic anterior pituitary gland", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/ectopic-anterior-pituitary-gland" }, { "slug": "ectopic-posterior-pituitary", "name": "Ectopic posterior pituitary", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ectopic-posterior-pituitary" }, { "slug": "emg-myopathic-abnormalities", "name": "EMG: myopathic abnormalities", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-myopathic-abnormalities" }, { "slug": "megalencephaly", "name": "Enlarged brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/megalencephaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "postaxial-hand-polydactyly", "name": "Extra little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly" }, { "slug": "postaxial-foot-polydactyly", "name": "Extra toe attached near the little toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/postaxial-foot-polydactyly" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "facial-asymmetry", "name": "Facial asymmetry", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-asymmetry" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "depressed-nasal-ridge", "name": "Flat nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depressed-nasal-ridge" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "slug": "frontoethmoidal-encephalocele", "name": "Frontoethmoidal encephalocele", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/frontoethmoidal-encephalocele" }, { "slug": "thick-lower-lip-vermilion", "name": "Full lower lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion" }, { "slug": "gastrostomy-tube-feeding-in-infancy", "name": "Gastrostomy tube feeding in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastrostomy-tube-feeding-in-infancy" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "hyperbilirubinemia", "name": "High blood bilirubin levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperbilirubinemia" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "abnormally-high-pitched-voice", "name": "High pitched voice", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormally-high-pitched-voice" }, { "slug": "hip-dislocation", "name": "Hip dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hip-dislocation" }, { "slug": "holoprosencephaly", "name": "Holoprosencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/holoprosencephaly" }, { "slug": "hypogonadotropic-hypogonadism", "name": "Hypogonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism" }, { "slug": "hypopituitarism", "name": "Hypopituitarism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypopituitarism" }, { "slug": "hypoplasia-of-the-pons", "name": "Hypoplasia of the pons", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-pons" }, { "slug": "hypoplasia-of-the-premaxilla", "name": "Hypoplasia of the primary palate bone", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-premaxilla" }, { "slug": "impulsivity", "name": "Impulsivity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impulsivity" }, { "slug": "inability-to-walk", "name": "Inability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inability-to-walk" }, { "slug": "infertility", "name": "Infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/infertility" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "interictal-epileptiform-activity", "name": "Interictal epileptiform activity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/interictal-epileptiform-activity" }, { "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": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "apathy", "name": "Lack of feeling, emotion, interest", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/apathy" }, { "slug": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "lateral-ventricular-asymmetry", "name": "Lateral ventricular asymmetry", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lateral-ventricular-asymmetry" }, { "slug": "lethargy", "name": "Lethargy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lethargy" }, { "slug": "limb-dystonia", "name": "Limb dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-dystonia" }, { "slug": "decreased-cervical-spine-mobility", "name": "Limited neck movement", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/decreased-cervical-spine-mobility" }, { "slug": "decreased-circulating-cortisol-level", "name": "Low blood cortisol level", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-cortisol-level" }, { "slug": "hypotension", "name": "Low blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotension" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "pituitary-hypothyroidism", "name": "Low thyroid gland function due to abnormal pituitary gland", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pituitary-hypothyroidism" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "midnasal-stenosis", "name": "Midnasal stenosis", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/midnasal-stenosis" }, { "slug": "single-naris", "name": "Mono nostril", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/single-naris" }, { "slug": "polydactyly", "name": "More than five fingers or toes on hands or feet", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/polydactyly" }, { "slug": "narrow-nasal-bridge", "name": "Narrow nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-nasal-bridge" }, { "slug": "coarctation-of-aorta", "name": "Narrowing of aorta", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coarctation-of-aorta" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "nasogastric-tube-feeding", "name": "Nasogastric tube feeding", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nasogastric-tube-feeding" }, { "slug": "neural-tube-defect", "name": "Neural tube defect", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neural-tube-defect" }, { "slug": "occipital-meningocele", "name": "Occipital meningocele", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/occipital-meningocele" }, { "slug": "solitary-median-maxillary-central-incisor", "name": "Only one upper front tooth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/solitary-median-maxillary-central-incisor" }, { "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": "oromotor-apraxia", "name": "Oromotor apraxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oromotor-apraxia" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "osteoporosis-of-vertebrae", "name": "Osteoporosis of vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteoporosis-of-vertebrae" }, { "slug": "panhypopituitarism", "name": "Panhypopituitarism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/panhypopituitarism" }, { "slug": "partial-agenesis-of-the-corpus-callosum", "name": "Partial agenesis of the corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/partial-agenesis-of-the-corpus-callosum" }, { "slug": "perisylvian-polymicrogyria", "name": "Perisylvian polymicrogyria", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/perisylvian-polymicrogyria" }, { "slug": "pituitary-dwarfism", "name": "Pituitary dwarfism", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pituitary-dwarfism" }, { "slug": "poor-speech", "name": "Poor speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/poor-speech" }, { "slug": "poor-suck", "name": "Poor suck", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/poor-suck" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "premature-birth", "name": "Premature birth", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/premature-birth" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "proboscis", "name": "Proboscis", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proboscis" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "prominent-antihelix", "name": "Prominent antihelix", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/prominent-antihelix" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "reduced-circulating-growth-hormone-concentration", "name": "Reduced circulating growth hormone concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-circulating-growth-hormone-concentration" }, { "slug": "reduced-circulating-prolactin-concentration", "name": "Reduced circulating prolactin concentration", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-circulating-prolactin-concentration" }, { "slug": "respiratory-failure-requiring-assisted-ventilation", "name": "Respiratory failure requiring assisted ventilation", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-failure-requiring-assisted-ventilation" }, { "slug": "rhombencephalosynapsis", "name": "Rhombencephalosynapsis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rhombencephalosynapsis" }, { "slug": "bilateral-cleft-palate", "name": "Right and left cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-cleft-palate" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "septo-optic-dysplasia", "name": "Septo-optic dysplasia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/septo-optic-dysplasia" }, { "slug": "severe-global-developmental-delay", "name": "Severe global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-global-developmental-delay" }, { "slug": "short-attention-span", "name": "Short attention span", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-attention-span" }, { "slug": "short-hard-palate", "name": "Short hard palate", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/short-hard-palate" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "short-nose", "name": "Short nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-nose" }, { "slug": "micropenis", "name": "Short penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/micropenis" }, { "slug": "short-philtrum", "name": "Short philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-philtrum" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "preauricular-skin-tag", "name": "Skin tag in front of the ear", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/preauricular-skin-tag" }, { "slug": "sleep-wake-cycle-disturbance", "name": "Sleep-wake cycle disturbance", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sleep-wake-cycle-disturbance" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "slug": "hemangioma", "name": "Strawberry mark", "systems": [ "abnormality-of-the-cardiovascular-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemangioma" }, { "slug": "temperature-instability", "name": "Temperature instability", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/temperature-instability" }, { "slug": "tented-upper-lip-vermilion", "name": "Tented mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tented-upper-lip-vermilion" }, { "slug": "tetralogy-of-fallot", "name": "Tetralogy of Fallot", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tetralogy-of-fallot" }, { "slug": "thin-corpus-callosum", "name": "Thin corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thin-corpus-callosum" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "hypoplasia-of-penis", "name": "Underdeveloped penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-penis" }, { "slug": "anterior-pituitary-hypoplasia", "name": "Underdeveloped pituitary gland", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anterior-pituitary-hypoplasia" }, { "slug": "underdeveloped-tragus", "name": "Underdeveloped tragus", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/underdeveloped-tragus" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "unilateral-cryptorchidism", "name": "Unilateral cryptorchidism", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/unilateral-cryptorchidism" }, { "slug": "vesicoureteral-reflux", "name": "Vesicoureteral reflux", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vesicoureteral-reflux" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "wide-anterior-fontanel", "name": "Wider-than-typical soft spot of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wide-anterior-fontanel" }, { "slug": "malar-flattening", "name": "Zygomatic flattening", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/malar-flattening" } ], "related": [ { "slug": "cdon", "symbol": "CDON", "name": "cell adhesion associated, oncogene regulated", "shared": 1, "url": "https://dantelabs.com/pl/genes/cdon" }, { "slug": "cnot1", "symbol": "CNOT1", "name": "CCR4-NOT transcription complex subunit 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/cnot1" }, { "slug": "disp1", "symbol": "DISP1", "name": "dispatched RND transporter family member 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/disp1" }, { "slug": "gli3", "symbol": "GLI3", "name": "GLI family zinc finger 3", "shared": 1, "url": "https://dantelabs.com/pl/genes/gli3" }, { "slug": "lhx3", "symbol": "LHX3", "name": "LIM homeobox 3", "shared": 1, "url": "https://dantelabs.com/pl/genes/lhx3" }, { "slug": "lhx4", "symbol": "LHX4", "name": "LIM homeobox 4", "shared": 1, "url": "https://dantelabs.com/pl/genes/lhx4" }, { "slug": "plch1", "symbol": "PLCH1", "name": "phospholipase C eta 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/plch1" }, { "slug": "ptch1", "symbol": "PTCH1", "name": "patched 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/ptch1" }, { "slug": "rbm28", "symbol": "RBM28", "name": "RNA binding motif protein 28", "shared": 1, "url": "https://dantelabs.com/pl/genes/rbm28" }, { "slug": "shh", "symbol": "SHH", "name": "sonic hedgehog signaling molecule", "shared": 1, "url": "https://dantelabs.com/pl/genes/shh" }, { "slug": "six3", "symbol": "SIX3", "name": "SIX homeobox 3", "shared": 1, "url": "https://dantelabs.com/pl/genes/six3" }, { "slug": "smo", "symbol": "SMO", "name": "smoothened, frizzled class receptor", "shared": 1, "url": "https://dantelabs.com/pl/genes/smo" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }