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"protein_coding", "start": 15673018, "end": 15698819, "strand": "+", "slug": "cyp4f12" } ], "truncated": false }, "reports": [ { "slug": "cerebral-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy", "name": "Cerebral arteriopati med subkortikala infarkter och leukoencefalopati", "diseases": [ { "mondoId": "MONDO:0007432", "name": "Cerebral Arteriopati Med Subkortikala Infarkter Och Leukoencefalopati", "genes": 2, "inheritance": null, "description": null, "management": "CADASIL: aggressiv blodtryckskontroll, undvik antikoagulation/trombolys, migränprofylax (undvik triptaner), kognitiv rehabilitering; Fabry: ERT (agalsidas), migalastat; COL4A1: blodtryckskontroll, undvik kontaktsporter; genetisk rådgivning", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ], "actionability": 8 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/cerebral-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cerebral-white-matter-morphology", "name": "Abnormal cerebral white matter morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology" }, { "slug": "tracheoesophageal-fistula", "name": "Abnormal connection between trachea and esophagus", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tracheoesophageal-fistula" }, { "slug": "abnormal-dentate-nucleus-morphology", "name": "Abnormal dentate nucleus morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-dentate-nucleus-morphology" }, { "slug": "abnormal-diffusion-weighted-cerebral-mri-morphology", "name": "Abnormal diffusion weighted cerebral MRI morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-diffusion-weighted-cerebral-mri-morphology" }, { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-circulating-creatine-kinase-activity", "name": "Abnormal levels of creatine kinase in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-circulating-creatine-kinase-activity" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "abnormal-sacrum-morphology", "name": "Abnormal sacrum morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-sacrum-morphology" }, { "slug": "abnormal-vertebral-body-morphology", "name": "Abnormal vertebral body morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology" }, { "slug": "abnormal-thorax-morphology", "name": "Abnormality of the chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-thorax-morphology" }, { "slug": "abnormality-of-the-eye", "name": "Abnormality of the eye", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-eye" }, { "slug": "abnormality-of-the-face", "name": "Abnormality of the face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-face" }, { "slug": "abnormal-hair-morphology", "name": "Abnormality of the hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-hair-morphology" }, { "slug": "abnormal-intestine-morphology", "name": "Abnormality of the intestine", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-intestine-morphology" }, { "slug": "abnormality-of-the-kidney", "name": "Abnormality of the kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-kidney" }, { "slug": "abnormality-of-the-middle-ear-ossicles", "name": "Abnormality of the middle ear ossicles", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-middle-ear-ossicles" }, { "slug": "abnormal-skull-morphology", "name": "Abnormality of the skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-skull-morphology" }, { "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": "abnormality-of-visual-evoked-potentials", "name": "Abnormality of visual evoked potentials", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormality-of-visual-evoked-potentials" }, { "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": "atresia-of-the-external-auditory-canal", "name": "Absent ear canal", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/atresia-of-the-external-auditory-canal" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "abulia", "name": "Abulia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abulia" }, { "slug": "acute-pancreatitis", "name": "Acute pancreatic inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/acute-pancreatitis" }, { "slug": "vascular-dilatation", "name": "Aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vascular-dilatation" }, { "slug": "anisometropia", "name": "Anisometropia", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anisometropia" }, { "slug": "anterior-synechiae-of-the-anterior-chamber", "name": "Anterior synechiae of the anterior chamber", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anterior-synechiae-of-the-anterior-chamber" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "bicuspid-aortic-valve", "name": "Aortic valve has two leaflets rather than three", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bicuspid-aortic-valve" }, { "slug": "appendicular-spasticity", "name": "Appendicular spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/appendicular-spasticity" }, { "slug": "astigmatism", "name": "Astigmatism", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/astigmatism" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "postural-instability", "name": "Balance impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/postural-instability" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "benign-neoplasm-of-the-central-nervous-system", "name": "Benign neoplasm of the central nervous system", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/benign-neoplasm-of-the-central-nervous-system" }, { "slug": "biconcave-vertebral-bodies", "name": "Biconcave vertebral bodies", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/biconcave-vertebral-bodies" }, { "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-cryptorchidism", "name": "Bilateral cryptorchidism", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-cryptorchidism" }, { "slug": "cerebral-hemorrhage", "name": "Bleeding in brain", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-hemorrhage" }, { "slug": "intracranial-hemorrhage", "name": "Bleeding within the skull", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intracranial-hemorrhage" }, { "slug": "anger", "name": "Boiling mad", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/anger" }, { "slug": "bone-cyst", "name": "Bone cyst", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/bone-cyst" }, { "slug": "brain-atrophy", "name": "Brain degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/brain-atrophy" }, { "slug": "osteolysis", "name": "Breakdown of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteolysis" }, { "slug": "brisk-reflexes", "name": "Brisk reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/brisk-reflexes" }, { "slug": "long-palpebral-fissure", "name": "Broad opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-palpebral-fissure" }, { "slug": "aortic-aneurysm", "name": "Bulge in wall of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aortic-aneurysm" }, { "slug": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "caesarean-section", "name": "Caesarean section", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/caesarean-section" }, { "slug": "chondrocalcinosis", "name": "Calcium deposits in joints", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chondrocalcinosis" }, { "slug": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "sarcoma", "name": "Cancer of connective tissue", "systems": [ "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sarcoma" }, { "slug": "neoplasm-of-the-pancreas", "name": "Cancer of the pancreas", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-pancreas" }, { "slug": "iris-coloboma", "name": "Cat eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iris-coloboma" }, { "slug": "cavitation-of-the-basal-ganglia", "name": "Cavitation of the basal ganglia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cavitation-of-the-basal-ganglia" }, { "slug": "cerebellar-vermis-hypoplasia", "name": "Cerebellar vermis hypoplasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-vermis-hypoplasia" }, { "slug": "chiari-malformation", "name": "Chiari malformation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chiari-malformation" }, { "slug": "chiari-type-i-malformation", "name": "Chiari type I malformation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chiari-type-i-malformation" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "clonus", "name": "Clonus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clonus" }, { "slug": "coarse-facial-features", "name": "Coarse facial features", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coarse-facial-features" }, { "slug": "coarse-hair", "name": "Coarse hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/coarse-hair" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "confusion", "name": "Confusion", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/confusion" }, { "slug": "congenital-diaphragmatic-hernia", "name": "Congenital diaphragmatic hernia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congenital-diaphragmatic-hernia" }, { "slug": "telecanthus", "name": "Corners of eye widely separated", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/telecanthus" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "cystic-hygroma", "name": "Cystic hygroma", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cystic-hygroma" }, { "slug": "optic-neuropathy", "name": "Damaged optic nerve", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/optic-neuropathy" }, { "slug": "acanthosis-nigricans", "name": "Darkened and thickened skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/acanthosis-nigricans" }, { "slug": "decreased-muscle-mass", "name": "Decreased muscle mass", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-muscle-mass" }, { "slug": "deep-cerebral-white-matter-hyperintensities", "name": "Deep cerebral white matter hyperintensities", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/deep-cerebral-white-matter-hyperintensities" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "delayed-ability-to-walk", "name": "Delayed ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-ability-to-walk" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dementia" }, { "slug": "sclerosis-of-skull-base", "name": "Dense bone of skull base", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/sclerosis-of-skull-base" }, { "slug": "dental-crowding", "name": "Dental crowding", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dental-crowding" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depression" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "aphasia", "name": "Difficulty finding words", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/aphasia" }, { "slug": "cerebral-ischemia", "name": "Disruption of blood oxygen supply to brain", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-ischemia" }, { "slug": "vertigo", "name": "Dizziness", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/vertigo" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "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": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "drooling", "name": "Drooling", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/drooling" }, { "slug": "bilateral-ptosis", "name": "Drooping of both upper eyelids", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bilateral-ptosis" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "unilateral-ptosis", "name": "Dropping of one upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/unilateral-ptosis" }, { "slug": "dural-ectasia", "name": "Dural ectasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dural-ectasia" }, { "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": "eeg-abnormality", "name": "EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eeg-abnormality" }, { "slug": "encephalopathy", "name": "Encephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/encephalopathy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "craniofacial-hyperostosis", "name": "Enlargement of craniofacial bones", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/craniofacial-hyperostosis" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "epiretinal-membrane", "name": "Epiretinal membrane", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epiretinal-membrane" }, { "slug": "esodeviation", "name": "Esodeviation", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/esodeviation" }, { "slug": "palmar-hyperhidrosis", "name": "Excessive sweating of hands", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/palmar-hyperhidrosis" }, { "slug": "wormian-bones", "name": "Extra bones within cranial sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/wormian-bones" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "facial-diplegia", "name": "Facial diplegia", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-diplegia" }, { "slug": "syncope", "name": "Fainting spell", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/syncope" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fever" }, { "slug": "fibroma", "name": "Fibroma", "systems": [ "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fibroma" }, { "slug": "subcutaneous-nodule", "name": "Firm lump under the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/subcutaneous-nodule" }, { "slug": "platybasia", "name": "Flattening of the skull base", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/platybasia" }, { "slug": "syringomyelia", "name": "Fluid-filled cyst in spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/syringomyelia" }, { "slug": "arachnoid-cyst", "name": "Fluid-filled sac located in membrane surrounding brain or spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/arachnoid-cyst" }, { "slug": "focal-t2-hyperintense-basal-ganglia-lesion", "name": "Focal T2 hyperintense basal ganglia lesion", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/focal-t2-hyperintense-basal-ganglia-lesion" }, { "slug": "frequent-temper-tantrums", "name": "Frequent temper tantrums", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/frequent-temper-tantrums" }, { "slug": "pectus-excavatum", "name": "Funnel chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pectus-excavatum" }, { "slug": "gingival-fibromatosis", "name": "Gingival fibromatosis", "systems": [ "abnormality-of-head-or-neck", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gingival-fibromatosis" }, { "slug": "gliosis", "name": "Gliosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gliosis" }, { "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": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "auditory-hallucination", "name": "Hallucinations of sound", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/auditory-hallucination" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hypercalcemia", "name": "High blood calcium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypercalcemia" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "hyperglycemia", "name": "High blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hyperglycemia" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "high-narrow-palate", "name": "High, narrow palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/high-narrow-palate" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "horizontal-nystagmus", "name": "Horizontal nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/horizontal-nystagmus" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "impaired-visuospatial-constructive-cognition", "name": "Impaired visuospatial constructive cognition", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-visuospatial-constructive-cognition" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "lipodystrophy", "name": "Inability to make and keep healthy fat tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/lipodystrophy" }, { "slug": "inappropriate-laughter", "name": "Inappropriate laughter", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/inappropriate-laughter" }, { "slug": "increased-facial-adipose-tissue", "name": "Increased amount of facial fat", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/increased-facial-adipose-tissue" }, { "slug": "increased-adipose-tissue-around-the-neck", "name": "Increased fat around the neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/increased-adipose-tissue-around-the-neck" }, { "slug": "increased-subcutaneous-truncal-adipose-tissue", "name": "Increased fat below the skin in trunk", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/increased-subcutaneous-truncal-adipose-tissue" }, { "slug": "limb-hypertonia", "name": "Increased muscle tone of arm or leg", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limb-hypertonia" }, { "slug": "hypertriglyceridemia", "name": "Increased plasma triglycerides", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypertriglyceridemia" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "thickened-calvaria", "name": "Increased thickness of skull cap", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thickened-calvaria" }, { "slug": "sepsis", "name": "Infection in blood stream", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sepsis" }, { "slug": "inguinal-hernia", "name": "Inguinal hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inguinal-hernia" }, { "slug": "insulin-resistant-diabetes-mellitus", "name": "Insulin resistant diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/insulin-resistant-diabetes-mellitus" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "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": "severe-intellectual-disability", "name": "Intellectual disability, severe", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/severe-intellectual-disability" }, { "slug": "intestinal-obstruction", "name": "Intestinal obstruction", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intestinal-obstruction" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "irregular-hyperpigmentation", "name": "Irregular hyperpigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irregular-hyperpigmentation" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "ischemic-stroke", "name": "Ischemic stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ischemic-stroke" }, { "slug": "keloids", "name": "Keloids", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/keloids" }, { "slug": "neurogenic-bladder", "name": "Lack of bladder control due to nervous system injury", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neurogenic-bladder" }, { "slug": "apathy", "name": "Lack of feeling, emotion, interest", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/apathy" }, { "slug": "lacunar-stroke", "name": "Lacunar stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lacunar-stroke" }, { "slug": "language-impairment", "name": "Language impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/language-impairment" }, { "slug": "lateral-ventricle-dilatation", "name": "Lateral ventricle dilatation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lateral-ventricle-dilatation" }, { "slug": "decreased-fetal-movement", "name": "Less than 10 fetal movements in 12 hours", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-fetal-movement" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "leukoencephalopathy", "name": "Leukoencephalopathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/leukoencephalopathy" }, { "slug": "limitation-of-joint-mobility", "name": "Limitation of joint mobility", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/limitation-of-joint-mobility" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "livedo-racemosa", "name": "Livedo racemosa", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/livedo-racemosa" }, { "slug": "livedo-reticularis", "name": "Livedo reticularis", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/livedo-reticularis" }, { "slug": "long-eyelashes", "name": "Long eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-eyelashes" }, { "slug": "long-philtrum", "name": "Long philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "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": "very-frequent", "url": "https://dantelabs.com/traits/dolichocephaly" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "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-gluteal-subcutaneous-adipose-tissue", "name": "Loss of fat tissue below the skin in gluts", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/loss-of-gluteal-subcutaneous-adipose-tissue" }, { "slug": "loss-of-subcutaneous-adipose-tissue-in-limbs", "name": "Loss of fat tissue below the skin in limbs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/loss-of-subcutaneous-adipose-tissue-in-limbs" }, { "slug": "low-posterior-hairline", "name": "Low hairline at back of neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/low-posterior-hairline" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oligohydramnios" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "neoplasm-of-the-lung", "name": "Lung cancer", "systems": [ "abnormality-of-the-respiratory-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/neoplasm-of-the-lung" }, { "slug": "memory-impairment", "name": "Memory impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "meningitis", "name": "Meningitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/meningitis" }, { "slug": "meningocele", "name": "Meningocele", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/meningocele" }, { "slug": "abnormally-slow-thought-process", "name": "Mental slowness", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormally-slow-thought-process" }, { "slug": "migraine", "name": "Migraine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/migraine" }, { "slug": "migraine-with-aura", "name": "Migraine with aura", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/migraine-with-aura" }, { "slug": "mild-global-developmental-delay", "name": "Mild global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mild-global-developmental-delay" }, { "slug": "transient-ischemic-attack", "name": "Mini stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/transient-ischemic-attack" }, { "slug": "moderate-hypermetropia", "name": "Moderate hypermetropia", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/moderate-hypermetropia" }, { "slug": "synophrys", "name": "Monobrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/synophrys" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "multifocal-hyperintensity-of-cerebral-white-matter-on-mri", "name": "Multifocal hyperintensity of cerebral white matter on MRI", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/multifocal-hyperintensity-of-cerebral-white-matter-on-mri" }, { "slug": "abnormality-of-the-musculature", "name": "Muscular abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-musculature" }, { "slug": "myofibromatosis", "name": "Myofibromatosis", "systems": [ "neoplasm" ], "url": "https://dantelabs.com/traits/myofibromatosis" }, { "slug": "narrow-palpebral-fissure", "name": "Narrow eyelid opening", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/narrow-palpebral-fissure" }, { "slug": "narrow-face", "name": "Narrow face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/narrow-face" }, { "slug": "narrow-forehead", "name": "Narrow forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/narrow-forehead" }, { "slug": "arterial-stenosis", "name": "Narrowing of an artery", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arterial-stenosis" }, { "slug": "hypernasal-speech", "name": "Nasal speech", "systems": [ "abnormality-of-the-voice" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypernasal-speech" }, { "slug": "nausea-and-vomiting", "name": "Nausea and vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nausea-and-vomiting" }, { "slug": "nocturnal-hypoventilation", "name": "Nocturnal hypoventilation", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nocturnal-hypoventilation" }, { "slug": "nonarteritic-anterior-ischemic-optic-neuropathy", "name": "Nonarteritic anterior ischemic optic neuropathy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/nonarteritic-anterior-ischemic-optic-neuropathy" }, { "slug": "retinopathy", "name": "Noninflammatory retina disease", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/retinopathy" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/obesity" }, { "slug": "obstructive-sleep-apnea", "name": "Obstructive sleep apnea", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/obstructive-sleep-apnea" }, { "slug": "oculomotor-apraxia", "name": "Oculomotor apraxia", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/oculomotor-apraxia" }, { "slug": "skin-ulcer", "name": "Open skin sore", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skin-ulcer" }, { "slug": "lower-limb-hyperreflexia", "name": "Overactive lower leg reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lower-limb-hyperreflexia" }, { "slug": "hemiplegia", "name": "Paralysis on one side of body", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hemiplegia" }, { "slug": "hemiplegia-hemiparesis", "name": "Paralysis or weakness of one side of body", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis" }, { "slug": "parkinsonism", "name": "Parkinsonism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/parkinsonism" }, { "slug": "hyperpigmentation-of-the-skin", "name": "Patchy darkened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "periventricular-white-matter-hyperintensities", "name": "Periventricular white matter hyperintensities", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/periventricular-white-matter-hyperintensities" }, { "slug": "perseverative-thought", "name": "Perseverative thought", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/perseverative-thought" }, { "slug": "personality-changes", "name": "Personality changes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/personality-changes" }, { "slug": "placenta-previa", "name": "Placenta previa", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/placenta-previa" }, { "slug": "coronary-artery-atherosclerosis", "name": "Plaque build-up in arteries supplying blood to heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/coronary-artery-atherosclerosis" }, { "slug": "poor-suck", "name": "Poor suck", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/poor-suck" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "posterior-vitreous-detachment", "name": "Posterior vitreous detachment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/posterior-vitreous-detachment" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "motor-deterioration", "name": "Progressive degeneration of movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/motor-deterioration" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "prominent-fingertip-pads", "name": "Prominent fingertip pads", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-fingertip-pads" }, { "slug": "prominent-metopic-ridge", "name": "Prominent metopic ridge", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-metopic-ridge" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "prominent-superficial-veins", "name": "Prominent veins", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/prominent-superficial-veins" }, { "slug": "pseudobulbar-paralysis", "name": "Pseudobulbar paralysis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system", "abnormality-of-the-voice" ], "url": "https://dantelabs.com/traits/pseudobulbar-paralysis" }, { "slug": "pseudobulbar-signs", "name": "Pseudobulbar signs", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pseudobulbar-signs" }, { "slug": "psychosis", "name": "Psychosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/psychosis" }, { "slug": "raynaud-phenomenon", "name": "Raynaud phenomenon", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/raynaud-phenomenon" }, { "slug": "recurrent-subcortical-infarcts", "name": "Recurrent subcortical infarcts", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-subcortical-infarcts" }, { "slug": "reduced-cerebral-white-matter-volume", "name": "Reduced cerebral white matter volume", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-cerebral-white-matter-volume" }, { "slug": "status-epilepticus", "name": "Repeated seizures without recovery between them", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/status-epilepticus" }, { "slug": "retinal-cotton-wool-spot", "name": "Retinal cotton wool spot", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-cotton-wool-spot" }, { "slug": "round-face", "name": "Round face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/round-face" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "short-nasal-bridge", "name": "Short nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/short-nasal-bridge" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "short-palpebral-fissure", "name": "Short opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-palpebral-fissure" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "simple-febrile-seizure", "name": "Simple febrile seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/simple-febrile-seizure" }, { "slug": "neoplasm-of-the-skin", "name": "Skin cancer", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/neoplasm-of-the-skin" }, { "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": "primary-microcephaly", "name": "Small head present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/primary-microcephaly" }, { "slug": "smooth-philtrum", "name": "Smooth philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/smooth-philtrum" }, { "slug": "laryngomalacia", "name": "Softening of voice box tissue", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/laryngomalacia" }, { "slug": "spastic-tetraparesis", "name": "Spastic tetraparesis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spastic-tetraparesis" }, { "slug": "stress-urinary-incontinence", "name": "Stress urinary incontinence", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stress-urinary-incontinence" }, { "slug": "stroke", "name": "Stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stroke" }, { "slug": "subcortical-dementia", "name": "Subcortical dementia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/subcortical-dementia" }, { "slug": "subependymal-nodules", "name": "Subependymal nodules", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/subependymal-nodules" }, { "slug": "tethered-cord", "name": "Tethered cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tethered-cord" }, { "slug": "thick-eyebrow", "name": "Thick eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thick-eyebrow" }, { "slug": "thin-corpus-callosum", "name": "Thin corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-corpus-callosum" }, { "slug": "thoracic-scoliosis", "name": "Thoracic scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thoracic-scoliosis" }, { "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": "umbilical-hernia", "name": "Umbilical hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/umbilical-hernia" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "upper-limb-hyperreflexia", "name": "Upper limb hyperreflexia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/upper-limb-hyperreflexia" }, { "slug": "varicose-veins", "name": "Varicose veins", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/varicose-veins" }, { "slug": "vascular-granular-osmiophilic-material-deposition", "name": "Vascular granular osmiophilic material deposition", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/vascular-granular-osmiophilic-material-deposition" }, { "slug": "vertebral-fusion", "name": "Vertebral fusion", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vertebral-fusion" }, { "slug": "visual-hallucination", "name": "Visual hallucinations", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/visual-hallucination" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-loss" }, { "slug": "hemiparesis", "name": "Weakness of one side of body", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hemiparesis" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "xanthomatosis", "name": "Yellow bumps of fatty deposits on skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/xanthomatosis" }, { "slug": "malar-flattening", "name": "Zygomatic flattening", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/malar-flattening" } ], "related": [ { "slug": "htra1", "symbol": "HTRA1", "name": "HtrA serine peptidase 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/htra1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }