{ "url": "https://dantelabs.com/ko/genes/rnu4atac", "gene": { "slug": "rnu4atac", "symbol": "RNU4ATAC", "name": "RNA, U4atac small nuclear", "hgnc": "HGNC:34016", "summary": null, "location": "2q14.2", "locusType": "RNA, small nuclear", "aliases": [ "RNU4ATAC1", "U4atac" ], "previousSymbols": [], "ensemblId": "ENSG00000264229", "entrezId": 100151683, "omim": [ "601428" ], "uniprot": [], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 121530880, "end": 121531009, "strand": "+", "ensemblTranscript": "ENST00000580972.2", "refseqTranscript": "NR_023343.3", "exons": [ { "start": 121530880, "end": 121531009 } ] }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 122288457, "end": 122288583, "strand": "+" }, "neighbourhood": { "release": "116", "start": 121030945, "end": 122030944, "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" }, { "symbol": "NIFK", "ensemblId": "ENSG00000155438", "biotype": "protein_coding", "start": 121724715, "end": 121737120, "strand": "-", "slug": "nifk" }, { "symbol": "TSN", "ensemblId": "ENSG00000211460", "biotype": "protein_coding", "start": 121737103, "end": 121767871, "strand": "+", "slug": "tsn" } ], "truncated": false }, "reports": [ { "slug": "immuno-osseous-dysplasias", "name": "면역-골 이형성증", "diseases": [ { "mondoId": "MONDO:0014722", "name": "Roifman 증후군", "genes": 1, "inheritance": "autosomal-recessive", "description": "RNU4ATAC 유전자의 변화로 발생하며, 골격 이형성증, 항체 생성 감소, 망막 변화 및 발달 지연이 함께 나타납니다.", "management": "질환을 인지하면 필요한 경우 항체 대체 요법을 시행할 수 있으며, 적절한 발달 및 안과 추적 관찰을 받을 수 있습니다.", "evidence": { "gencc": [ "Illumina", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/immuno-osseous-dysplasias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "11-pairs-of-ribs", "name": "11 pairs of ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/11-pairs-of-ribs" }, { "slug": "abnormally-ossified-vertebrae", "name": "Abnormal bone maturation of vertebra", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormally-ossified-vertebrae" }, { "slug": "abnormal-circulating-calcium-phosphate-regulating-hormone-concentration", "name": "Abnormal circulating calcium-phosphate regulating hormone concentration", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-calcium-phosphate-regulating-hormone-concentration" }, { "slug": "abnormal-cortical-gyration", "name": "Abnormal cortical gyration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cortical-gyration" }, { "slug": "epiphyseal-dysplasia", "name": "Abnormal development of end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/epiphyseal-dysplasia" }, { "slug": "abnormal-intervertebral-disk-morphology", "name": "Abnormal intervertebral disk morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-intervertebral-disk-morphology" }, { "slug": "abnormal-retinal-pigmentation", "name": "Abnormal retinal pigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation" }, { "slug": "abnormal-epiphysis-morphology", "name": "Abnormal shape of end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology" }, { "slug": "abnormal-metacarpal-morphology", "name": "Abnormal shape of long bones of hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-metacarpal-morphology" }, { "slug": "abnormal-tragus-morphology", "name": "Abnormal tragus morphology", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-tragus-morphology" }, { "slug": "abnormal-vertebral-body-morphology", "name": "Abnormal vertebral body morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology" }, { "slug": "abnormal-finger-morphology", "name": "Abnormalities of the fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-finger-morphology" }, { "slug": "abnormality-of-nail-color", "name": "Abnormality of nail color", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-nail-color" }, { "slug": "abnormality-of-the-kidney", "name": "Abnormality of the kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-kidney" }, { "slug": "abnormal-distal-phalanx-morphology-of-finger", "name": "Abnormality of the outermost finger bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-distal-phalanx-morphology-of-finger" }, { "slug": "abnormal-pubic-bone-morphology", "name": "Abnormality of the pubic bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-pubic-bone-morphology" }, { "slug": "abnormality-of-the-skeletal-system", "name": "Abnormality of the skeletal system", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-skeletal-system" }, { "slug": "abnormality-of-the-upper-urinary-tract", "name": "Abnormality of the upper urinary tract", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-upper-urinary-tract" }, { "slug": "abnormal-metaphysis-morphology", "name": "Abnormality of the wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology" }, { "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": "aplastic-clavicle", "name": "Absent collarbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aplastic-clavicle" }, { "slug": "absent-knee-epiphyses", "name": "Absent knee end part", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/absent-knee-epiphyses" }, { "slug": "aplasia-hypoplasia-of-the-femur", "name": "Absent/small thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-femur" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "agenesis-of-cerebellar-vermis", "name": "Agenesis of cerebellar vermis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/agenesis-of-cerebellar-vermis" }, { "slug": "agenesis-of-corpus-callosum", "name": "Agenesis of corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum" }, { "slug": "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": "aplasia-hypoplasia-of-the-corpus-callosum", "name": "Aplasia/Hypoplasia of the corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-corpus-callosum" }, { "slug": "astigmatism", "name": "Astigmatism", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/astigmatism" }, { "slug": "biconvex-vertebral-bodies", "name": "Biconvex vertebral bodies", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/biconvex-vertebral-bodies" }, { "slug": "bifid-uvula", "name": "Bifid uvula", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bifid-uvula" }, { "slug": "bilateral-single-transverse-palmar-creases", "name": "Bilateral single transverse palmar creases", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bilateral-single-transverse-palmar-creases" }, { "slug": "bowed-humerus", "name": "Bowed long bone in upper arm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/bowed-humerus" }, { "slug": "femoral-bowing", "name": "Bowed thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/femoral-bowing" }, { "slug": "bowing-of-the-long-bones", "name": "Bowing of the long bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bowing-of-the-long-bones" }, { "slug": "retinal-dystrophy", "name": "Breakdown of light-sensitive cells in back of eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinal-dystrophy" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "generalized-non-motor-absence-seizure", "name": "Brief seizures with staring spells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure" }, { "slug": "long-palpebral-fissure", "name": "Broad opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/long-palpebral-fissure" }, { "slug": "broad-distal-phalanx-of-finger", "name": "Broad outermost finger bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/broad-distal-phalanx-of-finger" }, { "slug": "bulbous-nose", "name": "Bulbous nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bulbous-nose" }, { "slug": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "cerebellar-vermis-hypoplasia", "name": "Cerebellar vermis hypoplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "cleft-vertebral-arch", "name": "Cleft vertebral arch", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/cleft-vertebral-arch" }, { "slug": "colpocephaly", "name": "Colpocephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/colpocephaly" }, { "slug": "coxa-vara", "name": "Coxa vara", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coxa-vara" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "renal-cyst", "name": "Cystic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renal-cyst" }, { "slug": "decreased-circulating-immunoglobulin-concentration", "name": "Decreased circulating antibody level", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration" }, { "slug": "decreased-t-cell-activation", "name": "Decreased T cell activation", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-t-cell-activation" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "delayed-epiphyseal-ossification", "name": "Delayed maturation of end part of long bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-epiphyseal-ossification" }, { "slug": "delayed-proximal-femoral-epiphyseal-ossification", "name": "Delayed proximal femoral epiphyseal ossification", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-proximal-femoral-epiphyseal-ossification" }, { "slug": "nyctalopia", "name": "Difficulties with night vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "patellar-dislocation", "name": "Dislocated kneecap", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/patellar-dislocation" }, { "slug": "dislocated-radial-head", "name": "Dislocated radial head", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dislocated-radial-head" }, { "slug": "disproportionate-short-stature", "name": "Disproportionate short stature", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/disproportionate-short-stature" }, { "slug": "downturned-corners-of-mouth", "name": "Downturned corners of mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/downturned-corners-of-mouth" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "eczematoid-dermatitis", "name": "Eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eczematoid-dermatitis" }, { "slug": "elbow-dislocation", "name": "Elbow dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elbow-dislocation" }, { "slug": "elbow-flexion-contracture", "name": "Elbow flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elbow-flexion-contracture" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "enlarged-metaphyses", "name": "Enlarged wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/enlarged-metaphyses" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "epileptic-spasm", "name": "Epileptic spasm", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/epileptic-spasm" }, { "slug": "recurrent-fever", "name": "Episodic fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-fever" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "breech-presentation", "name": "Feet or buttocks of fetus positioned near opening of uterus", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/breech-presentation" }, { "slug": "pachygyria", "name": "Fewer and broader ridges in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pachygyria" }, { "slug": "fine-hair", "name": "Fine hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fine-hair" }, { "slug": "platyspondyly", "name": "Flattened vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/platyspondyly" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "arachnoid-cyst", "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arachnoid-cyst" }, { "slug": "thick-vermilion-border", "name": "Full lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thick-vermilion-border" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "gray-matter-heterotopia", "name": "Gray matter heterotopia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gray-matter-heterotopia" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "hyperbilirubinemia", "name": "High blood bilirubin levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperbilirubinemia" }, { "slug": "increased-total-eosinophil-count", "name": "High blood eosinophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-total-eosinophil-count" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "hip-contracture", "name": "Hip contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hip-contracture" }, { "slug": "hip-dislocation", "name": "Hip dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hip-dislocation" }, { "slug": "hippocampal-atrophy", "name": "Hippocampal atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hippocampal-atrophy" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "hydronephrosis", "name": "Hydronephrosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hydronephrosis" }, { "slug": "hydroureter", "name": "Hydroureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hydroureter" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "hypogonadotropic-hypogonadism", "name": "Hypogonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism" }, { "slug": "knee-flexion-contracture", "name": "Inability to straighten knee", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/knee-flexion-contracture" }, { "slug": "hyperconvex-nail", "name": "Increased nail curvature", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperconvex-nail" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "interhemispheric-cyst", "name": "Interhemispheric cyst", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/interhemispheric-cyst" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "moderate-intellectual-disability", "name": "IQ between 34 and 49", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/moderate-intellectual-disability" }, { "slug": "irregular-capital-femoral-epiphysis", "name": "Irregular end part of innermost thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/irregular-capital-femoral-epiphysis" }, { "slug": "irregular-epiphyses", "name": "Irregular end part of long bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/irregular-epiphyses" }, { "slug": "irregular-femoral-epiphysis", "name": "Irregular thighbone end part", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/irregular-femoral-epiphysis" }, { "slug": "irregular-vertebral-endplates", "name": "Irregular vertebral endplates", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/irregular-vertebral-endplates" }, { "slug": "arthralgia", "name": "Joint pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arthralgia" }, { "slug": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "slug": "large-hands", "name": "Large hands", "systems": [ "abnormality-of-limbs" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/large-hands" }, { "slug": "large-iliac-wing", "name": "Large iliac wing", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/large-iliac-wing" }, { "slug": "lateral-ventricle-dilatation", "name": "Lateral ventricle dilatation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation" }, { "slug": "limb-undergrowth", "name": "Limb undergrowth", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/limb-undergrowth" }, { "slug": "limited-elbow-extension", "name": "Limited elbow extension", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limited-elbow-extension" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "long-clavicle", "name": "Long collarbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/long-clavicle" }, { "slug": "long-foot", "name": "Long foot", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/long-foot" }, { "slug": "long-nose", "name": "Long nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/long-nose" }, { "slug": "long-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/long-philtrum" }, { "slug": "dolichocephaly", "name": "Long, narrow head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dolichocephaly" }, { "slug": "loss-of-consciousness", "name": "Loss of consciousness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/loss-of-consciousness" }, { "slug": "loss-of-eyelashes", "name": "Loss of eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/loss-of-eyelashes" }, { "slug": "peripheral-visual-field-loss", "name": "Loss of peripheral vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-visual-field-loss" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "url": "https://dantelabs.com/traits/oligohydramnios" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "microlissencephaly", "name": "Microlissencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microlissencephaly" }, { "slug": "polymicrogyria", "name": "More grooves in brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polymicrogyria" }, { "slug": "multiple-epiphyseal-dysplasia", "name": "Multiple epiphyseal dysplasia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/multiple-epiphyseal-dysplasia" }, { "slug": "multiple-joint-dislocation", "name": "Multiple joint dislocation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/multiple-joint-dislocation" }, { "slug": "muscle-stiffness", "name": "Muscle stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/muscle-stiffness" }, { "slug": "muscular-ventricular-septal-defect", "name": "Muscular ventricular septal defect", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscular-ventricular-septal-defect" }, { "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": "narrow-nose", "name": "Narrow nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-nose" }, { "slug": "coarctation-of-aorta", "name": "Narrowing of aorta", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/coarctation-of-aorta" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "noncompaction-cardiomyopathy", "name": "Noncompaction cardiomyopathy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/noncompaction-cardiomyopathy" }, { "slug": "bifid-first-metacarpal", "name": "Notched first long bone of hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bifid-first-metacarpal" }, { "slug": "bifid-femur", "name": "Notched thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bifid-femur" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "partial-agenesis-of-the-corpus-callosum", "name": "Partial agenesis of the corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/partial-agenesis-of-the-corpus-callosum" }, { "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": "pigmentary-retinopathy", "name": "Pigmentary retinopathy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pigmentary-retinopathy" }, { "slug": "polycystic-kidney-dysplasia", "name": "Polycystic kidney dysplasia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia" }, { "slug": "preaxial-polydactyly", "name": "Preaxial polydactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/preaxial-polydactyly" }, { "slug": "premature-birth", "name": "Premature birth", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/premature-birth" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "prominent-occiput", "name": "Prominent back of the head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/prominent-occiput" }, { "slug": "prominent-eyelashes", "name": "Prominent eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-eyelashes" }, { "slug": "prominent-metopic-ridge", "name": "Prominent metopic ridge", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-metopic-ridge" }, { "slug": "prominent-nose", "name": "Prominent nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-nose" }, { "slug": "retrognathia", "name": "Receding chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/retrognathia" }, { "slug": "recurrent-otitis-media", "name": "Recurrent middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-otitis-media" }, { "slug": "recurrent-pneumonia", "name": "Recurrent pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-pneumonia" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "round-face", "name": "Round face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/round-face" }, { "slug": "severe-postnatal-growth-retardation", "name": "Severe growth delay in children", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/severe-postnatal-growth-retardation" }, { "slug": "severe-short-stature", "name": "Severe short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-short-stature" }, { "slug": "shallow-acetabular-fossae", "name": "Shallow acetabular fossae", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/shallow-acetabular-fossae" }, { "slug": "short-chin", "name": "Short chin", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-chin" }, { "slug": "short-digit", "name": "Short digit", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-digit" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "short-foot", "name": "Short foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-foot" }, { "slug": "short-humerus", "name": "Short humerus", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-humerus" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "short-palm", "name": "Short palm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-palm" }, { "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": "occasional", "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": "short-femur", "name": "Short thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-femur" }, { "slug": "short-thumb", "name": "Short thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-thumb" }, { "slug": "short-toe", "name": "Short toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-toe" }, { "slug": "short-metacarpal", "name": "Shortened long bone of hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-metacarpal" }, { "slug": "shoulder-flexion-contracture", "name": "Shoulder flexion contracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/shoulder-flexion-contracture" }, { "slug": "single-transverse-palmar-crease", "name": "Single transverse palmar crease", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/single-transverse-palmar-crease" }, { "slug": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "small-anterior-fontanelle", "name": "Small anterior fontanelle", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/small-anterior-fontanelle" }, { "slug": "cerebral-hypoplasia", "name": "Small cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-hypoplasia" }, { "slug": "microtia", "name": "Small ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microtia" }, { "slug": "small-epiphyses", "name": "Small end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/small-epiphyses" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "renal-hypoplasia", "name": "Small kidneys", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renal-hypoplasia" }, { "slug": "hypoplastic-ilia", "name": "Small wings of the pelvic girdle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypoplastic-ilia" }, { "slug": "micromelia", "name": "Smaller or shorter than typical limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/micromelia" }, { "slug": "osteomalacia", "name": "Softening of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/osteomalacia" }, { "slug": "sparse-eyebrow", "name": "Sparse eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sparse-eyebrow" }, { "slug": "sparse-eyelashes", "name": "Sparse eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sparse-eyelashes" }, { "slug": "sparse-hair", "name": "Sparse hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sparse-hair" }, { "slug": "sparse-scalp-hair", "name": "Sparse scalp hair", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sparse-scalp-hair" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "slug": "spondyloepiphyseal-dysplasia", "name": "Spondyloepiphyseal dysplasia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spondyloepiphyseal-dysplasia" }, { "slug": "squared-iliac-bones", "name": "Squared iliac bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/squared-iliac-bones" }, { "slug": "restrictive-ventilatory-defect", "name": "Stiff lung or chest wall causing decreased lung volume", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/restrictive-ventilatory-defect" }, { "slug": "submucous-cleft-hard-palate", "name": "Submucous cleft hard palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/submucous-cleft-hard-palate" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lymphadenopathy" }, { "slug": "tetralogy-of-fallot", "name": "Tetralogy of Fallot", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/tetralogy-of-fallot" }, { "slug": "thickened-nuchal-skin-fold", "name": "Thickened skin folds of neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thickened-nuchal-skin-fold" }, { "slug": "thin-eyebrow", "name": "Thin eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thin-eyebrow" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "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": "hypoplasia-of-the-frontal-lobes", "name": "Underdeveloped frontal lobe", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-frontal-lobes" }, { "slug": "underdeveloped-nasal-alae", "name": "Underdeveloped tissue around nostril", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/underdeveloped-nasal-alae" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "abnormality-of-the-urinary-system", "name": "Urinary tract abnormalities", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-urinary-system" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "rickets", "name": "Weak and soft bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/rickets" }, { "slug": "broad-femoral-head", "name": "Wide head of thigh bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-femoral-head" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "progressive-neurologic-deterioration", "name": "Worsening neurological symptoms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration" }, { "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": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "snRna" }, "variants": { "total": 0, "url": null, "items": [] } }