{ "url": "https://dantelabs.com/lt/genes/aldh18a1", "gene": { "slug": "aldh18a1", "symbol": "ALDH18A1", "name": "aldehyde dehydrogenase 18 family member A1", "hgnc": "HGNC:9722", "summary": null, "location": "10q24.1", "locusType": "gene with protein product", "aliases": [ "P5CS" ], "previousSymbols": [ "GSAS", "PYCS", "SPG9" ], "ensemblId": "ENSG00000059573", "entrezId": 5832, "omim": [ "138250" ], "uniprot": [ "P54886" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 95605941, "end": 95656711, "strand": "-", "ensemblTranscript": "ENST00000371224.7", "refseqTranscript": "NM_002860.4", "ensemblProtein": "ENSP00000360268.2", "refseqProtein": "NP_002851.2", "exons": [ { "start": 95605941, "end": 95606943 }, { "start": 95610197, "end": 95610292 }, { "start": 95611256, "end": 95611442 }, { "start": 95613742, "end": 95613863 }, { "start": 95613966, "end": 95614161 }, { "start": 95616477, "end": 95616614 }, { "start": 95621031, "end": 95621251 }, { "start": 95625362, "end": 95625455 }, { "start": 95626703, "end": 95626776 }, { "start": 95627442, "end": 95627586 }, { "start": 95628368, "end": 95628492 }, { "start": 95632959, "end": 95633049 }, { "start": 95633491, "end": 95633649 }, { "start": 95637093, "end": 95637197 }, { "start": 95637287, "end": 95637436 }, { "start": 95642992, "end": 95643206 }, { "start": 95653290, "end": 95653405 }, { "start": 95656597, "end": 95656711 } ], "cds": { "start": 95606762, "end": 95653377 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "10", "start": 97365696, "end": 97416463, "strand": "-" }, "neighbourhood": { "release": "116", "start": 95131326, "end": 96131325, "genes": [ { "symbol": "ACSM6", "ensemblId": "ENSG00000173124", "biotype": "protein_coding", "start": 95194200, "end": 95228929, "strand": "+", "slug": "acsm6" }, { "symbol": "PDLIM1", "ensemblId": "ENSG00000107438", "biotype": "protein_coding", "start": 95237569, "end": 95291126, "strand": "-", "slug": "pdlim1" }, { "symbol": "SORBS1", "ensemblId": "ENSG00000095637", "biotype": "protein_coding", "start": 95311390, "end": 95561469, "strand": "-", "slug": "sorbs1" }, { "symbol": "TCTN3", "ensemblId": "ENSG00000119977", "biotype": "protein_coding", "start": 95659823, "end": 95694143, "strand": "-", "slug": "tctn3" }, { "symbol": "ENTPD1", "ensemblId": "ENSG00000138185", "biotype": "protein_coding", "start": 95711752, "end": 95901433, "strand": "+", "slug": "entpd1" }, { "symbol": "", "ensemblId": "ENSG00000270099", "biotype": "protein_coding", "start": 95860548, "end": 95924844, "strand": "+" }, { "symbol": "CC2D2B", "ensemblId": "ENSG00000188649", "biotype": "protein_coding", "start": 95907603, "end": 96033745, "strand": "+", "slug": "cc2d2b" }, { "symbol": "CCNJ", "ensemblId": "ENSG00000107443", "biotype": "protein_coding", "start": 96043053, "end": 96060870, "strand": "+", "slug": "ccnj" }, { "symbol": "ZNF518A", "ensemblId": "ENSG00000177853", "biotype": "protein_coding", "start": 96129695, "end": 96205288, "strand": "+", "slug": "znf518a" } ], "truncated": false }, "reports": [ { "slug": "cutis-laxa", "name": "Cutis laxa", "diseases": [ { "mondoId": "MONDO:0016175", "name": "Cutis laxa", "genes": 16, "inheritance": null, "description": "Cutis laxa (CL) – tai paveldimas arba įgytas jungiamojo audinio sutrikimas, kuriam būdinga raukšlėta, perteklinė ir nusileidusi neelastinga oda, susijusi su kaulų ir vystymosi anomalijomis, o kai kuriais atvejais – su sunkiu sisteminiu pažeidimu. Aprašytos kelios skirtingos paveldimos CL formos, kurios skiriasi pagal paveldėjimo būdą, vidaus organų pažeidimo mastą, susijusias anomalijas ir ligos sunkumą.", "management": null, "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/cutis-laxa" }, { "slug": "p5cs-deficiency-aldh18a1", "name": "P5CS deficitas (susijęs su ALDH18A1)", "diseases": [ { "mondoId": "MONDO:0100126", "name": "P5CS deficitas", "genes": 1, "inheritance": null, "description": "P5CS deficitą sukelia ALDH18A1 geno pokyčiai; šiame gene koduojamas fermentas P5CS, būtinas prolinui ir ornitinui gaminti. Liga gali būti paveldima autosominiu recesyviniu būdu (pakitusios abi kopijos) arba autosominiu dominantiniu būdu, kai vieną pakitusią kopiją, dažnai atsiradusią de novo, sutrikdo fermento veikimą.", "management": "Priežiūra apima akių įvertinimą ir, esant poreikiui, drumstumo chirurginį gydymą, fizioterapiją ir spastiškumo valdymą, vystymosi palaikymą bei aminorūgščių kiekio metabolinę stebėseną. Rekomenduojama genetinė konsultacija, nes pasitaiko ir recesyvinio, ir dominantinio paveldėjimo; tėvų ištyrimas padeda įvertinti pasikartojimo riziką.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/p5cs-deficiency-aldh18a1" }, { "slug": "hereditary-spastic-paraplegia", "name": "Paveldima spastinė paraplegija", "diseases": [ { "mondoId": "MONDO:0019064", "name": "Paveldimos spastinės paraplegijos (visi tipai)", "genes": 66, "inheritance": null, "description": "Bendras terminas, apimantis visas paveldimas spastines paraplegijas, įskaitant SPG4 (SPAST) – dažniausią dominuojančią formą – taip pat SPG5A, SPG6, SPG10, SPG18, SPG30 ir SPG31.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/hereditary-spastic-paraplegia" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Paveldimos neurodegeneracinės ligos", "diseases": [ { "mondoId": "MONDO:0024237", "name": "Su KIF5A susijusi neurodegeneracinė liga", "genes": 372, "inheritance": "autosomal-dominant", "description": "Ją sukelia pokyčiai viename KIF5A geno egzemplioriuje. Šis genas koduoja motorinį baltymą su krovinį surišančia uodega. Skirtingų tipų pokyčiai sukelia skirtingas ligas: paveldimą spastinę paraplegiją 10 tipo, aksoninę Charcot-Marie-Tooth ligos formą ir amiotrofinę šoninę sklerozę (ALS).", "management": "Gydymas simptominis ir priklauso nuo ligos pasireiškimo. Jis apima fizioterapiją, vaistus nuo spastiškumo ir daugiadisciplininę ALS priežiūrą. Kiekvienas vaiko, kuriam perduotas pakitimas, turi 1 iš 2 tikimybę jį paveldėti. Genetinis konsultavimas padeda šeimoms tai suprasti.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/inherited-neurodegenerative-disorders-selected-genes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cerebral-white-matter-morphology", "name": "Abnormal cerebral white matter morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cerebral-white-matter-morphology" }, { "slug": "abnormal-curvature-of-the-vertebral-column", "name": "Abnormal curve of the backbone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-curvature-of-the-vertebral-column" }, { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-periventricular-white-matter-morphology", "name": "Abnormal periventricular white matter morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-periventricular-white-matter-morphology" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "abnormal-pelvic-girdle-bone-morphology", "name": "Abnormal shape of pelvic girdle bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/abnormal-pelvic-girdle-bone-morphology" }, { "slug": "abnormal-upper-motor-neuron-morphology", "name": "Abnormal shape of upper motor neuron", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/abnormal-upper-motor-neuron-morphology" }, { "slug": "abnormal-spinal-cord-dorsal-column-morphology", "name": "Abnormal spinal cord dorsal column morphology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-spinal-cord-dorsal-column-morphology" }, { "slug": "abnormality-of-pain-sensation", "name": "Abnormality of pain sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-pain-sensation" }, { "slug": "abnormal-cerebellum-morphology", "name": "Abnormality of the cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cerebellum-morphology" }, { "slug": "hypotelorism", "name": "Abnormally close eyes", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/hypotelorism" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-achilles-reflex", "name": "Absent ankle reflexes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-achilles-reflex" }, { "slug": "unilateral-renal-agenesis", "name": "Absent kidney on one side", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/unilateral-renal-agenesis" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "gastroesophageal-reflux", "name": "Acid reflux", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastroesophageal-reflux" }, { "slug": "aortic-regurgitation", "name": "Aortic regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aortic-regurgitation" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "babinski-sign", "name": "Babinski sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/babinski-sign" }, { "slug": "genu-recurvatum", "name": "Back knee", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/genu-recurvatum" }, { "slug": "postural-instability", "name": "Balance impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/postural-instability" }, { "slug": "bladder-diverticulum", "name": "Bladder diverticulum", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bladder-diverticulum" }, { "slug": "hyperactive-patellar-reflex", "name": "Brisk knee jerk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperactive-patellar-reflex" }, { "slug": "brisk-reflexes", "name": "Brisk reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/brisk-reflexes" }, { "slug": "broad-forehead", "name": "Broad forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/broad-forehead" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/brachycephaly" }, { "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": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/myopia" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "developmental-cataract", "name": "Clouding of the lens of the eye at birth", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/developmental-cataract" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "pollakisuria", "name": "Constant urination", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pollakisuria" }, { "slug": "corneal-arcus", "name": "Corneal arcus", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/corneal-arcus" }, { "slug": "corneal-opacity", "name": "Corneal opacity", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/corneal-opacity" }, { "slug": "corpus-callosum-atrophy", "name": "Corpus callosum atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/corpus-callosum-atrophy" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "cerebral-cortical-atrophy", "name": "Decrease in size of the outer layer of the brain due to loss of brain cells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy" }, { "slug": "hypoornithinemia", "name": "Decreased blood ornithine concentrations", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoornithinemia" }, { "slug": "hypoprolinemia", "name": "Decreased blood proline levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoprolinemia" }, { "slug": "decreased-circulating-citrulline-concentration", "name": "Decreased circulating citrulline concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-citrulline-concentration" }, { "slug": "decreased-circulating-vitamin-d-concentration", "name": "Deficient in vitamin D", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-d-concentration" }, { "slug": "atrophy-of-the-spinal-cord", "name": "Degeneration of the spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrophy-of-the-spinal-cord" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "delayed-cranial-suture-closure", "name": "Delayed cranial suture closure", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-cranial-suture-closure" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dementia", "name": "Dementia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dementia" }, { "slug": "dermal-translucency", "name": "Dermal translucency", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dermal-translucency" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "generalized-amyotrophy", "name": "Diffuse skeletal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-amyotrophy" }, { "slug": "dilatation-of-the-ventricular-cavity", "name": "Dilatation of the ventricular cavity", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilatation-of-the-ventricular-cavity" }, { "slug": "congenital-hip-dislocation", "name": "Dislocated hip since birth", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/congenital-hip-dislocation" }, { "slug": "distal-amyotrophy", "name": "Distal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/distal-amyotrophy" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "dysfunction-of-lateral-corticospinal-tracts", "name": "Dysfunction of lateral corticospinal tracts", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysfunction-of-lateral-corticospinal-tracts" }, { "slug": "elbow-flexion-contracture", "name": "Elbow flexion contracture", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elbow-flexion-contracture" }, { "slug": "emphysema", "name": "Emphysema", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emphysema" }, { "slug": "enlarged-cisterna-magna", "name": "Enlarged cisterna magna", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/enlarged-cisterna-magna" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "episodic-vomiting", "name": "Episodic vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/episodic-vomiting" }, { "slug": "wormian-bones", "name": "Extra bones within cranial sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wormian-bones" }, { "slug": "falls", "name": "Falls", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/falls" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "flat-sella-turcica", "name": "Flat sella turcica", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flat-sella-turcica" }, { "slug": "focal-dystonia", "name": "Focal dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/focal-dystonia" }, { "slug": "foot-dorsiflexor-weakness", "name": "Foot drop", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foot-dorsiflexor-weakness" }, { "slug": "fragmented-elastic-fibers-in-the-dermis", "name": "Fragmented elastic fibers in the dermis", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fragmented-elastic-fibers-in-the-dermis" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "pectus-excavatum", "name": "Funnel chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/pectus-excavatum" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "cutis-laxa", "name": "Hanging skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cutis-laxa" }, { "slug": "hernia", "name": "Hernia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hernia" }, { "slug": "hyperammonemia", "name": "High blood ammonia levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperammonemia" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pes-cavus" }, { "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": "hoffmann-sign", "name": "Hoffmann sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hoffmann-sign" }, { "slug": "horizontal-nystagmus", "name": "Horizontal nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/horizontal-nystagmus" }, { "slug": "hyperextensible-skin", "name": "Hyperelastic skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperextensible-skin" }, { "slug": "impaired-continence", "name": "Impaired continence", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-continence" }, { "slug": "impaired-distal-vibration-sensation", "name": "Impaired distal vibration sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/impaired-distal-vibration-sensation" }, { "slug": "impaired-vibration-sensation-at-ankles", "name": "Impaired vibration sensation at ankles", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-vibration-sensation-at-ankles" }, { "slug": "impaired-vibration-sensation-in-the-lower-limbs", "name": "Impaired vibration sensation in the lower limbs", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-vibration-sensation-in-the-lower-limbs" }, { "slug": "impaired-vibratory-sensation", "name": "Impaired vibratory sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-vibratory-sensation" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "increased-number-of-skin-folds", "name": "Increased number of skin folds", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-number-of-skin-folds" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "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": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "athetosis", "name": "Involuntary writhing movements in fingers, hands, toes, and feet", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/athetosis" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "adducted-thumb", "name": "Inward turned thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/adducted-thumb" }, { "slug": "moderate-intellectual-disability", "name": "IQ between 34 and 49", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/moderate-intellectual-disability" }, { "slug": "kyphoscoliosis", "name": "Kyphoscoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/kyphoscoliosis" }, { "slug": "wide-cranial-sutures", "name": "Large cranial suture", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/wide-cranial-sutures" }, { "slug": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "small-foramen-magnum", "name": "Little foramen magnum", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/small-foramen-magnum" }, { "slug": "redundant-skin", "name": "Loose redundant skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/redundant-skin" }, { "slug": "loss-of-ambulation", "name": "Loss of ability to walk", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/loss-of-ambulation" }, { "slug": "anarthria", "name": "Loss of articulate speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anarthria" }, { "slug": "urinary-incontinence", "name": "Loss of bladder control", "systems": [ "abnormality-of-the-genitourinary-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/urinary-incontinence" }, { "slug": "loss-of-speech", "name": "Loss of speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/loss-of-speech" }, { "slug": "hypoargininemia", "name": "Low blood arginine levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoargininemia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/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-hypertonia", "name": "Lower limb hypertonia", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lower-limb-hypertonia" }, { "slug": "lower-limb-pain", "name": "Lower limb pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lower-limb-pain" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "low-back-pain", "name": "Lumbago", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-back-pain" }, { "slug": "memory-impairment", "name": "Memory impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "motor-polyneuropathy", "name": "Motor polyneuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/motor-polyneuropathy" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "muscle-spasm", "name": "Muscle spasm", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-spasm" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "narrow-nasal-ridge", "name": "Narrow nasal ridge", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/narrow-nasal-ridge" }, { "slug": "coarctation-of-aorta", "name": "Narrowing of aorta", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coarctation-of-aorta" }, { "slug": "peripheral-pulmonary-artery-stenosis", "name": "Narrowing of peripheral lung artery", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-pulmonary-artery-stenosis" }, { "slug": "os-odontoideum", "name": "Os odontoideum", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/os-odontoideum" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteopenia" }, { "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": "tetraplegia", "name": "Paralysis of all four limbs", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tetraplegia" }, { "slug": "peripheral-axonal-neuropathy", "name": "Peripheral axonal neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-axonal-neuropathy" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "postural-tremor", "name": "Postural tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/postural-tremor" }, { "slug": "premature-skin-wrinkling", "name": "Premature skin wrinkling", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/premature-skin-wrinkling" }, { "slug": "prematurely-aged-appearance", "name": "Prematurely aged appearance", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prematurely-aged-appearance" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "primitive-reflex", "name": "Primitive reflex", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/primitive-reflex" }, { "slug": "progressive-gait-ataxia", "name": "Progressive gait ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-gait-ataxia" }, { "slug": "protruding-ear", "name": "Prominent ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/protruding-ear" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "prominent-superficial-blood-vessels", "name": "Prominent superficial blood vessels", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-superficial-blood-vessels" }, { "slug": "pseudobulbar-paralysis", "name": "Pseudobulbar paralysis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system", "abnormality-of-the-voice" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pseudobulbar-paralysis" }, { "slug": "psychosis", "name": "Psychosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/psychosis" }, { "slug": "pyelonephritis", "name": "Pyelonephritis", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pyelonephritis" }, { "slug": "redundant-neck-skin", "name": "Redundant neck skin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/redundant-neck-skin" }, { "slug": "resting-tremor", "name": "Resting tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/resting-tremor" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "small-bowel-diverticula", "name": "Small bowel diverticula", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/small-bowel-diverticula" }, { "slug": "carpal-bone-hypoplasia", "name": "Small carpal bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/carpal-bone-hypoplasia" }, { "slug": "sparse-hair", "name": "Sparse hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sparse-hair" }, { "slug": "spastic-dysarthria", "name": "Spastic dysarthria", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spastic-dysarthria" }, { "slug": "spastic-paraplegia", "name": "Spastic paraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spastic-paraplegia" }, { "slug": "spastic-gait", "name": "Spastic walk", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spastic-gait" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "slug": "hiatus-hernia", "name": "Stomach hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hiatus-hernia" }, { "slug": "talipes-calcaneovalgus", "name": "Talipes calcaneovalgus", "systems": [ "abnormality-of-limbs" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/talipes-calcaneovalgus" }, { "slug": "thin-skin", "name": "Thin skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/thin-skin" }, { "slug": "tip-toe-gait", "name": "Toe walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tip-toe-gait" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "triangular-face", "name": "Triangular face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/triangular-face" }, { "slug": "tortuous-cerebral-arteries", "name": "Twisted cerebral arteries", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tortuous-cerebral-arteries" }, { "slug": "umbilical-hernia", "name": "Umbilical hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/umbilical-hernia" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "unusual-bronchiolitis", "name": "Unusual bronchiolitis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/unusual-bronchiolitis" }, { "slug": "upper-limb-hyperreflexia", "name": "Upper limb hyperreflexia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/upper-limb-hyperreflexia" }, { "slug": "upper-motor-neuron-dysfunction", "name": "Upper motor neuron dysfunction", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/upper-motor-neuron-dysfunction" }, { "slug": "urinary-retention", "name": "Urinary retention", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urinary-retention" }, { "slug": "urinary-urgency", "name": "Urinary urgency", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urinary-urgency" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "distal-muscle-weakness", "name": "Weakness of outermost muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/distal-muscle-weakness" }, { "slug": "large-fontanelles", "name": "Wide fontanelles", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/large-fontanelles" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "progressive-neurologic-deterioration", "name": "Worsening neurological symptoms", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-neurologic-deterioration" } ], "related": [ { "slug": "abcd1", "symbol": "ABCD1", "name": "ATP binding cassette subfamily D member 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/abcd1" }, { "slug": "abhd16a", "symbol": "ABHD16A", "name": "abhydrolase domain containing 16A, phospholipase", "shared": 2, "url": "https://dantelabs.com/lt/genes/abhd16a" }, { "slug": "amfr", "symbol": "AMFR", "name": "autocrine motility factor receptor", "shared": 2, "url": "https://dantelabs.com/lt/genes/amfr" }, { "slug": "ap4b1", "symbol": "AP4B1", "name": "adaptor related protein complex 4 subunit beta 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/ap4b1" }, { "slug": "ap4e1", "symbol": "AP4E1", "name": "adaptor related protein complex 4 subunit epsilon 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/ap4e1" }, { "slug": "ap4m1", "symbol": "AP4M1", "name": "adaptor related protein complex 4 subunit mu 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/ap4m1" }, { "slug": "ap4s1", "symbol": "AP4S1", "name": "adaptor related protein complex 4 subunit sigma 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/ap4s1" }, { "slug": "ap5z1", "symbol": "AP5Z1", "name": "adaptor related protein complex 5 subunit zeta 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/ap5z1" }, { "slug": "arl6ip1", "symbol": "ARL6IP1", "name": "ARL6 interacting reticulophagy regulator 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/arl6ip1" }, { "slug": "atl1", "symbol": "ATL1", "name": "atlastin GTPase 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/atl1" }, { "slug": "atp13a2", "symbol": "ATP13A2", "name": "ATPase cation transporting 13A2", "shared": 2, "url": "https://dantelabs.com/lt/genes/atp13a2" }, { "slug": "atp7a", "symbol": "ATP7A", "name": "ATPase copper transporting alpha", "shared": 2, "url": "https://dantelabs.com/lt/genes/atp7a" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }