Referência |
Doença |
---|---|
SEQ1116 | Smith-Lemli-Opitz syndrome |
MLP1106 | Arteriovenous malformation |
MLP1108 | Ehlers-Danlos syndrome |
MLP1025 | Sotos syndrome |
EXN1181 | Diaphragmatic hernia |
SEQ1103 | Anophthalmia and microphthalmia and anterior segment dysgenesis |
SEQ1100 | Stickler syndrome |
SEQ1101 | Hermansky-Pudlak syndrome |
SEQ1095 | Bardet-Biedl syndrome |
SEQ9655 | Weaver syndrome |
SEQ9302 | Hereditary hemorrhagic telangectasia type 2 |
SEQ9020 | Smith-Kingsmore syndrome / Focal cortical dysplasia, type II |
SEQ9051 | Sotos syndrome |
SEQ8951 | Rubinstein-Taybi syndrome |
SEQ8960 | Rubinstein-Taybi syndrome |
SEQ8971 | Schaaf-Yang syndrome |
SEQ8001 | Sick sinus syndrome |
SEQ8920 | Juvenile retinoschisis |
SEQ8921 | Rett syndrome |
SEQ8923 | Hypophosphatemic rickets, X-linked |
SEQ8925 | Vitamin D-dependent rickets |
SEQ8930 | Robinow syndrome |
SEQ8910 | Retinoblastoma (hotspots) |
SEQ8915 | Caudal regression, syndrome |
SEQ8491 | Pterygium Syndrome (Lethal Forms) |
SEQ8492 | Pterygium Syndrome (Lethal Forms) |
SEQ8493 | Pterygium Syndrome (Lethal Forms) |
SEQ8421 | Prune Belly Syndrome |
SEQ8431 | Pseudoachondroplasia |
SEQ8401 | Proteus syndrome |
SEQ8415 | Preauricular bulge |
SEQ8343 | Polymicrogyria |
SEQ8361 | Congenital erythropoietic porphyria |
SEQ8331 | Pitt-Hopkins syndrome |
SEQ8291 | Pycnodysostosis |
SEQ8301 | Clubfoot due to PITX1 point mutation |
SEQ8311 | Piebaldism |
SEQ8241 | Pendred syndrome |
SEQ8251 | Perlman's syndrome |
SEQ8261 | Peters, anomaly |
SEQ8262 | Peters, anomaly |
SEQ8271 | Peters-plus syndrome |
SEQ8111 | Horizontal gaze palsy with progressive scoliosis |
SEQ7831 | Osteopetrosis, autosomal recessive type 5 |
SEQ7836 | Osteopetrosis and High Bone Density Diseases |
SEQ7841 | Cervical facial syndrome |
SEQ7851 | Oto-palato-digital syndrome type 2 |
SEQ7798 | Osteogenesis imperfecta, Type IX |
SEQ7799 | Osteogenesis imperfecta, type XI |
SEQ7792 | Imperfect osteogenesis |
SEQ7793 | Imperfect osteogenesis |
SEQ7795 | Osteogenesis Imperfecta type IIB |
SEQ7796 | Osteogenesis Imperfecta type VIII |
SEQ7797 | Osteogenesis Imperfecta type VIII |
SEQ7771 | Opitz syndrome |
SEQ7781 | Opitz-Kaveggia syndrome |
SEQ7791 | Imperfect osteogenesis |
SEQ7751 | Ohdo syndrome type SBBYS |
SEQ7537 | Noonan syndrome |
SEQ7541 | Noonan-like syndrome with deciduous anagen hair |
SEQ7542 | Noonan-like syndrome with or without juvenile myelomonocytic leukemia |
SEQ7532 | Noonan syndrome |
SEQ7533 | Noonan syndrome |
SEQ7534 | Noonan syndrome |
SEQ7535 | Noonan syndrome |
SEQ7536 | Noonan syndrome |
SEQ7511 | Nijmegen syndrome |
SEQ7512 | Nijmegen syndrome |
SEQ7531 | Rasopathies (Noonan Syndrome included) |
SEQ7421 | Neurofibromatosis-like syndromes |
SEQ7249 | Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) |
SEQ7401 | Nail Patella Syndrome |
SEQ7411 | Nasu-Hakola disease |
SEQ7412 | Nasu-Hakola disease |
SEQ7413 | Nasu-Hakola disease / Polycystic lipomembranous osteodysplasia with sclerotic leukoencephalopathy |
SEQ7243 | Mucopolysaccharidosis Type II (Hunter Syndrome) |
SEQ7245 | Mucopolysaccharidosis Type IIIC (Sanfilippo B Syndrome) |
SEQ7246 | Mucopolysaccharidosis Type IIIC (Sanfilippo C Syndrome) |
SEQ7247 | Mucopolysaccharidosis Type IIID |
SEQ7248 | Mucopolysaccharidosis Type IV B |
SEQ7231 | Mucolipidosis |
SEQ7232 | Mucolipidosis |
SEQ7233 | Mucolipidosis |
SEQ7241 | Mucopolysaccharidosis |
SEQ7242 | Mucopolysaccharidosis Type 1H, 1S (Hurler Syndrome) |
SEQ7211 | Mowat-Wilson syndrome |
SEQ7221 | Muckle-Wells syndrome |
SEQ7230 | Mucolipidosis type 4 |
SEQ7138 | Primary microcephaly |
SEQ7104 | Marfan syndrome |
SEQ7105 | Marshall-Smith syndrome |
SEQ7111 | McCune-Albright syndrome |
SEQ7121 | MENKES syndrome |
SEQ7125 | Meckel syndrome |
SEQ6985 | Lissencephaly |
SEQ6991 | Loeys-Dietz syndrome |
SEQ6993 | Loeys-Dietz syndrome |
SEQ6994 | Glomuvenous malformations |
SEQ7102 | Marfan syndrome |
SEQ6971 | Lissencephaly |
SEQ6972 | Lissencephaly |
SEQ6982 | X-linked lissencephaly |
SEQ6934 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 3 |
SEQ6935 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 4 |
SEQ6932 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 1 |
SEQ6933 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 2 |
SEQ6842 | sg Leopard syndrome |
SEQ6811 | Laron's syndrome |
SEQ6821 | Larsen syndrome |
SEQ6841 | Leopard syndrome |
SEQ6615 | Klippel-Feil syndrome |
SEQ6601 | Kabuki syndrome |
SEQ6602 | Kabuki syndrome |
SEQ6606 | Kabuki syndrome |
SEQ6295 | Osteogenesis imperfecta type V |
SEQ6151 | Hutchinson-Gilford Progeria |
SEQ6110 | Holoprosencephaly |
SEQ6111 | Holoprosencephaly |
SEQ6113 | Holoprosencephaly |
SEQ6114 | Holoprosencephaly |
SEQ6115 | Holoprosencephaly |
SEQ6121 | Holt-Oram syndrome |
SEQ6103 | Holoprosencephaly |
SEQ6104 | Holoprosencephaly |
SEQ6105 | Holoprosencephaly |
SEQ6106 | Holoprosencephaly |
SEQ6108 | Holoprosencephaly |
SEQ6081 | Hypophosphatasia |
SEQ6091 | Dominant hypophosphatemia with nephrolithiasis or osteoporosis |
SEQ6095 | Focal dermal hypoplasia |
SEQ6101 | Holoprosencephaly |
SEQ6102 | Holoprosencephaly |
SEQ6072 | Hypochondroplasia |
SEQ6074 | Hypochondroplasia, c.1138G> A / C and c.1620C> A / G FGFR3 gene mutation |
SEQ6078 | Hypophosphatasia |
SEQ6071 | Hypochondroplasia |
SEQ6045 | Hyperhomocysteinemia |
SEQ6029 | Hyperhomocysteinemia |
SEQ5981 | Hydroletal Syndrome |
SEQ5951 | Periventricular nodular heterotopia |
SEQ5961 | X-linked periventricular heterotopia |
SEQ5971 | X-linked hydrocephalus |
SEQ5941 | Heterotaxy |
SEQ5943 | Heterotaxy |
SEQ5944 | Heterotaxy |
SEQ5945 | Heterotaxy |
SEQ5948 | Heterotaxia and situs inversus |
SEQ5926 | Hermansky-Pudlak syndrome |
SEQ5927 | Hermansky-Pudlak syndrome |
SEQ5928 | Hermansky-Pudlak syndrome |
SEQ5929 | Hermansky-Pudlak syndrome |
SEQ5930 | Hermansky-Pudlak syndrome |
SEQ5921 | Hermansky-Pudlak syndrome type 2 |
SEQ5922 | Hermansky-Pudlak syndrome |
SEQ5924 | Hermansky-Pudlak syndrome |
SEQ5925 | Hermansky-Pudlak syndrome |
SEQ5741 | Gorlin syndrome |
SEQ5742 | Gorlin syndrome |
SEQ5671 | GAPO syndrome |
SEQ5651 | Galactosialidosis |
SEQ5661 | GM1 gangliosidosis type 1 |
SEQ5561 | Fibrodysplasia ossificans progressiva |
SEQ5521 | Fanconi-Bickel syndrome |
SEQ5531 | Feingold syndrome |
SEQ5551 | Fibrodysplasia ossificans progressiva |
SEQ5427 | Floating-Harbor syndrome |
SEQ5291 | Multiple Exostoses |
SEQ5292 | Multiple Exostoses |
SEQ5265 | Tuberous sclerosis |
SEQ5266 | Tuberous sclerosis |
SEQ5267 | Tuberous sclerosis |
SEQ5281 | Sclerosteosis |
SEQ5041 | Muscle-eye-brain disease |
SEQ4901 | Type 2 primordial osteodysplastic microcephalic dwarfism |
SEQ4870 | Ehlers-Danlos syndrome type VI |
SEQ4871 | Ehlers-Danlos type VIIC |
SEQ4872 | Ehlers-Danlos syndrome Musculocontractural type |
SEQ4864 | Ehlers-Danlos syndrome type I / type II (classic) |
SEQ4865 | Ehlers-Danlos syndrome type I / type II (classic) |
SEQ4866 | Ehlers-Danlos Syndrome Type III |
SEQ4867 | Ehlers-Danlos Syndrome Type III |
SEQ4868 | Ehlers-Danlos Syndrome Type III |
SEQ4869 | Ehlers-Danlos Syndrome Type IV (vascular) |
SEQ4851 | Ectrodactyly, Ectodermal Dysplasia and Palatal Cleft Syndrome type 3 (EEC Type 3) |
SEQ4861 | Ehlers-Danlos syndrome CLASSIC TYPE |
SEQ4862 | Ehlers-Danlos syndrome |
SEQ4863 | Ehlers-Danlos syndrome type I / type II (classic) |
SEQ4598 | Donnai-Barrow syndrome |
SEQ4611 | Radial ray Duane syndrome |
SEQ4631 | Dyggve-Melchior-Clausen syndrome |
SEQ4591 | Asphyxiating Thoracic Dystrophy of the Newborn (Jeune Syndrome) |
SEQ4592 | Asphyxiating Thoracic Dystrophy of the Newborn (Jeune Syndrome) |
SEQ4593 | Asphyxiating Thoracic Dystrophy of the Newborn (Jeune Syndrome) |
SEQ4594 | Asphyxiating Thoracic Dystrophy of the Newborn (Jeune Syndrome) |
SEQ4440 | Facial dysstasis |
SEQ4343 | Congenital dyskeratosis |
SEQ4344 | Congenital dyskeratosis |
SEQ4345 | Congenital dyskeratosis |
SEQ4346 | Congenital dyskeratosis |
SEQ4347 | Congenital dyskeratosis |
SEQ4348 | Congenital dyskeratosis |
SEQ4327 | Septo-optic dysplasia |
SEQ4329 | Septo-optic dysplasia |
SEQ4331 | Thanatophoric dysplasia type I and type II |
SEQ4341 | Congenital dyskeratosis |
SEQ4342 | Congenital dyskeratosis |
SEQ4305 | Spondyloepiphyseal dysplasia type Kimberley / Spondylometaphyseal dysplasia type Aggrecan / Familial osteochondritis dissecante |
SEQ4307 | Spondylometaphyseal dysplasia |
SEQ4308 | Skeletal dysplasia with abnormal mineralization |
SEQ4312 | Frontonasal Dysplasia Type 2 |
SEQ4313 | Frontonasal Dysplasia Type 3 |
SEQ4321 | Geleophysical dysplasia |
SEQ4293 | Multiple Epiphyseal Dysplasia type 1 |
SEQ4294 | Multiple Epiphyseal Dysplasia type 4 |
SEQ4301 | Congenital Spondyloepiphyseal Dysplasia |
SEQ4302 | X-Linked Spondyloepiphyseal Dysplasia |
SEQ4304 | Spondylometaphyseal dysplasia with combined immunodeficiency |
SEQ4285 | Silverman Handmaker Dissegmental Dysplasia / Schwart-Jampel Syndrome |
SEQ4291 | Multiple Epiphyseal Dysplasia type 1 |
SEQ4292 | Multiple Epiphyseal Dysplasia type 1 |
SEQ4271 | Ectodermal Dysplasia |
SEQ4222 | Campomelica Dysplasia |
SEQ4231 | Complex cortical dysplasia with other brain malformations |
SEQ4251 | Craniofrontonasal Dysplasia |
SEQ4261 | Diastrophic Dysplasia |
SEQ4265 | Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia |
SEQ4201 | Postaxial acrofacial dysostosis-Miller syndrome |
SEQ4211 | Autosomal dominant spondylocostal dysostosis |
SEQ4221 | Mandibulofacial dysostosis |
SEQ4172 | Gonadal Dysgenesis (XY female) (Swyer's Syndrome) |
SEQ4173 | Gonadal Dysgenesis (XY female) (Swyer's Syndrome) |
SEQ4141 | Leri-Weill dyschondrosteosis (LWD) |
SEQ4111 | Ovarian digenesis |
SEQ4112 | Ovarian digenesis |
SEQ3992 | Dent disease |
SEQ3993 | Dent disease |
SEQ4007 | Mitochondrial DNA depletion |
SEQ4011 | Desbuquois syndrome |
SEQ3976 | Frontotemporal dementias |
SEQ3991 | Dent disease |
SEQ3821 | Pyruvate dehydrogenase E1-alpha deficiency |
SEQ3591 | Isolated type IB growth hormone deficiency |
SEQ3561 | Interleukin 1 receptor antagonist deficiency |
SEQ3371 | Congenital Heart Defects |
SEQ3131 | Crouzon syndrome with Acanthosis Nigricans, mutation p.Ala391Glu FGFR3 gene |
SEQ3132 | Crouzon Syndrome with Acanthosis Nigricans |
SEQ3141 | Crouzon syndrome, syndrome |
SEQ3101 | Craniosynostosis |
SEQ3111 | Craniosynostosis Type 1 |
SEQ3112 | Craniosynostosis Type 2 |
SEQ3113 | Craniosynostosis Type 3 |
SEQ3062 | Cornelia de Lange syndrome |
SEQ3063 | Cornelia de Lange syndrome |
SEQ3064 | Cornelia de Lange syndrome |
SEQ3081 | Costello syndrome |
SEQ3061 | Cornelia de Lange syndrome |
SEQ3001 | Blomstrand-type chondrodysplasia |
SEQ2971 | Chondrodysplasia with congenital joint dislocations |
SEQ2981 | Schmid-type metaphyseal chondrodysplasia |
SEQ2991 | Recessive X-linked chondrodysplasia punctata |
SEQ2992 | Chondrodysplasia punctata |
SEQ2993 | Dominant X-linked chondrodysplasia punctata |
SEQ2994 | Chondrodysplasia Punctata, Rhizomelic type |
SEQ2941 | Cohen syndrome, c.3348_3349delCT mutation VPS13B gene |
SEQ2942 | Cohen syndrome |
SEQ2921 | Cockayne syndrome |
SEQ2922 | Cockayne syndrome |
SEQ2923 | Cockayne syndrome |
SEQ2931 | Coffin-Lowry syndrome |
SEQ2901 | CK syndrome |
SEQ2851 | Chudley-McCullough syndrome |
SEQ2821 | CHARGE syndrome |
SEQ2841 | CHILD syndrome |
SEQ2761 | Char syndrome |
SEQ2681 | Canavan disease |
SEQ2691 | Cantú syndrome |
SEQ2643 | Calcinosis, tumor |
SEQ2651 | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
SEQ2671 | Cardiac channelopathies |
SEQ2431 | Bruck syndrome |
SEQ2601 | C syndrome |
SEQ2402 | Brachydactyly type E |
SEQ2403 | Brachydactyly type E |
SEQ2404 | Brachydactyly type E |
SEQ2405 | Brachydactyly mental retardation syndrome |
SEQ2411 | Brachiolmia type 3 |
SEQ2421 | BRESEK syndrome |
SEQ2361 | Bloom syndrome |
SEQ2371 | BNAR syndrome |
SEQ2381 | Branchial-oculo-facial syndrome |
SEQ2391 | Branchio-oto-renal syndrome Type 1 |
SEQ2401 | Brachydactyly type B2 |
SEQ2323 | Blackfan-Diamond disease |
SEQ2324 | Blackfan-Diamond disease |
SEQ2325 | Blackfan-Diamond disease |
SEQ2326 | Blackfan-Diamond disease |
SEQ2327 | Blackfan-Diamond disease |
SEQ2328 | Blackfan-Diamond disease |
SEQ2329 | Blackfan-Diamond disease |
SEQ2321 | Blackfan-Diamond disease |
SEQ2322 | Blackfan-Diamond disease |
SEQ2271 | Beals Syndrome (Congenital Contractural Arachnodactyly) |
SEQ2281 | NIMSeq® sg SC CDKN1C gene. Beckwith-Wiedemann syndrome |
SEQ2230 | Bardet-Biedl syndrome type 10 |
SEQ2231 | Bardet-Biedl syndrome type 11 |
SEQ2232 | Bardet-Biedl syndrome type 12 |
SEQ2233 | Bardet-Biedl syndrome type 13 |
SEQ2241 | Bardet-Biedl syndrome type 1 |
SEQ2223 | Bardet-Biedl syndrome type 2 |
SEQ2224 | Bardet-Biedl syndrome type 3 |
SEQ2225 | Bardet-Biedl syndrome type 4 |
SEQ2226 | Bardet-Biedl syndrome type 5 |
SEQ2227 | Bardet-Biedl syndrome type 7 |
SEQ2228 | Bardet-Biedl syndrome type 8 |
SEQ2041 | Axenfeld-Riegeer syndrome type 1 |
SEQ2043 | Axenfeld-Riegeer syndrome type 3 |
SEQ2221 | Bardet-Biedl syndrome type 1, p.Met390Arg gene BBS1 mutation |
SEQ2222 | Bardet-Biedl syndrome type 1 |
SEQ1991 | ATR-X syndrome |
SEQ1965 | Childhood cerebral and cerebellar atrophy with progressive postnatal microcephaly |
SEQ1771 | Antley-Bixler syndrome |
SEQ1772 | Anttley-Bixler-like syndrome, ambiguous genitalia, impaired steroidogenesis |
SEQ1781 | Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations by FGFR2 gene sequencing |
SEQ1791 | Fibula aplasia - complex brachydactyly (Du Pan syndrome) |
SEQ1801 | Isolated breast aplasia |
SEQ1741 | Anophthalmia - microphthalmia, isolated |
SEQ1742 | Anophthalmia - microphthalmia, isolated |
SEQ1701 | Síndrome de Angelman |
SEQ1661 | Thiamine-sensitive megaloblastic anemia syndrome |
SEQ1632 | Fanconi anemia |
SEQ1633 | Fanconi anemia |
SEQ1634 | Fanconi anemia |
SEQ1637 | Fanconi anemia |
SEQ1627 | Fanconi anemia |
SEQ1628 | Fanconi anemia |
SEQ1629 | Fanconi anemia |
SEQ1630 | Fanconi anemia |
SEQ1631 | Fanconi anemia |
SEQ1621 | Fanconi anemia |
SEQ1622 | Fanconi anemia |
SEQ1624 | Fanconi anemia |
SEQ1625 | Fanconi anemia |
SEQ1626 | Fanconi anemia |
SEQ1591 | Andermann syndrome, c.2436delC mutation by SLC12A6 gene sequencing |
SEQ1601 | Andersen syndrome |
SEQ1451 | Alpha-1-Antitrypsin, deficiency |
SEQ1471 | Alpha-Thalassemia |
SEQ1400 | Alagille Syndrome Type 1 |
SEQ1402 | Alagille Syndrome Types 1 and 2 |
SEQ1412 | Albinism isolated and syndromic forms |
SEQ1414 | Oculocutaneous albinism type 2 |
SEQ1389 | Lissencephaly |
SEQ1390 | Early-onset myopia, areflexia, respiratory distress, and dysphagia syndrome (EMARDD) |
SEQ1391 | Renal agenesis |
SEQ1373 | Arthrogryposis |
SEQ1374 | Gastrointestinal atresia |
SEQ1350 | Congenital Blackfan-Diamond Erythorblastopenia and Differential Diagnosis |
SEQ1351 | Adams-Oliver syndrome |
SEQ1352 | Adams-Oliver syndrome |
SEQ1356 | Adams-Oliver syndrome |
SEQ1341 | Acrodysostosis 1 and 2, with or without hormonal resistance |
SEQ1326 | Sulfite oxidase, molybdenum and xanthine deficiency |
SEQ1331 | Achondroplasia, Mutation p.Gly380Arg (c.1138G>A and c.1138G>C) FGFR3 gene |
SEQ1332 | Achondroplasia, Mutations p.Gly375Cys (c.1123G>T), p.Gly380Arg (c.1138G>A and c.1138G>C) FGFR3 gene |
SEQ1315 | Acidemia/Organic Aciduria and Cobalamin deficiency |
SEQ1321 | Achondrogenesis type 1b |
SEQ1087 | Ambiguous Genitalia |
SEQ1088 | Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus |
SEQ1089 | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
SEQ1221 | Aceruloplasminemia |
SEQ1084 | Noonan syndrome |
SEQ1086 | Ataxia - Oculomotor apraxia type 4 / Epileptic encephalopathy of early childhood |
SEQ1072 | DICER1 Syndrome |
SEQ1073 | Cleft Hand / Foot Malformation 1 with Sensorineural Hearing Loss |
SEQ1074 | Glow Syndrome (Tissue Mosaicism) |
SEQ1002 | 3-M syndrome |
SEQ1011 | 3-M syndrome |
SEQ1012 | 3-M syndrome |
SEQ1013 | Mucocutaneous venous malformations / Congenital glaucoma |
SEQ1001 | 3-M syndrome |
PRE6002 | Ambiguous genitalia |
PRE7001 | Rasopathies (Noonan Syndrome included) |
PRE7002 | Noonan syndrome / Noonan-like syndrome / Costello syndrome / Cardiofaciocutaneous syndrome / Legius syndrome |
PRE7003 | Prenatal skeletal dysplasias |
MLP3625 | Wolf-Hirschhorn syndrome |
MLP3601 | WAGR syndrome / Frasier syndrome |
MLP3611 | Williams-Beuren syndrome |
MLP3421 | Treacher Collins 1 syndrome |
MLP3431 | Tricho-rhino-phalangeal syndrome type 1 / Langer-Giedion syndrome |
MLP3311 | Simpson-Golabi-Behmel syndrome |
MLP3315 | Smith-Lemli-Opitz, syndrome of |
MLP3321 | Smith-Magenis syndrome |
MLP3331 | Sotos syndrome |
MLP3341 | Autosomic dominant Stickler syndrome |
MLP3131 | Idiopathic growth retardation |
MLP3141 | Rett syndrome |
MLP3151 | Rubinstein–Taybi syndrome |
MLP3101 | Resistance to insulin-like growth factor I |
MLP2941 | Pendred syndrome |
MLP2971 | Pitt-Hopkins syndrome / Congenital variant of Rett syndrome |
MLP2801 | Opitz syndrome |
MLP2811 | Osteogenesis imperfecta |
MLP2812 | Osteogenesis imperfecta |
MLP2831 | Oto-facio-cervical syndrome |
MLP2601 | Mucopolysaccharidosis type II or Hunter syndrome |
MLP2611 | Multiple exostoses |
MLP2701 | Nail Patella syndrome |
MLP2561 | Menkes syndrome |
MLP2571 | Syndromic microphthalmia type 3 |
MLP2521 | Hereditary ocular abnormalities |
MLP2531 | Mitochondrial DNA maintenance |
MLP2541 | Marfan syndrome |
MLP2542 | Marfan syndrome |
MLP2421 | Heart and limb malformations |
MLP2431 | X-linked lissencephaly |
MLP2441 | Loeys-Dietz syndrome |
MLP2501 | Cerebral cavernous malformations |
MLP2511 | Limb malformations |
MLP2312 | Kallmann 2 syndrome |
MLP2321 | Kleefstra syndrome |
MLP2205 | Mediterranean fever family |
MLP2301 | Kabuki syndrome |
MLP2131 | X-linked hypophosphatemia |
MLP2001 | Gorlin syndrome |
MLP1831 | Tuberous sclerosis 1 |
MLP1832 | Tuberous sclerosis 2 |
MLP1801 | Ehlers-Danlos type III syndrome |
MLP1802 | Ehlers Danlos type VI syndrome |
MLP1651 | Mitochondrial DNA depletion Syndrome |
MLP1655 | Diabetes type MODY. |
MLP1661 | DiGeorge syndrome |
MLP1665 | Gonadal dysgenesis |
MLP1631 | X-linked creatine transporter deficiency |
MLP1481 | Cholestasis |
MLP1501 | Cornelia de Lange syndrome |
MLP1454 | X-linked Charcot-Marie-Tooth disease |
MLP1241 | Blackfan-Diamond disease |
MLP1401 | Gonadal dysgenesis |
MLP1211 | Beckwith-Wiedemann syndrome / Russell-Silver syndrome |
MLP1096 | FANCA |
MLP1097 | Temple syndrome |
MLP1071 | Angelman syndrome / Prader Willi syndrome |
MLP1011 | Alagille syndrome type 1 |
MLP1021 | Ocular albinism type 1 |
MLP1031 | Oculocutaneous albinism type II |
MLP1001 | Aarskog-Scott syndrome |
EXN1167 | Lymphatic Malformations and Related Diseases |
EXN1169 | Amelogenesis Imperfect and Dentinogenesis Imperfect |
EXN1170 | Brachydactyly and Syndactyly |
EXN1171 | Metaphyseal dysplasia |
EXN1172 | Micro or Warburg-Sjo-Fledelius syndrome |
EXN1160 | Klippel-Feil syndrome |
EXN1144 | VACTERL/VATER association and syndromes included in the differential diagnosis |
EXN1145 | Kidney malformations |
EXN1148 | Orofaciodigital syndromes |
EXN1138 | Progeria and Progeroid syndromes |
EXN1135 | Pre-auricular lump |
EXN1121 | Jarcho Levin syndrome |
EXN1124 | Septo-optic dysplasia |
EXN1116 | Meckel syndrome |
EXN1110 | Hermansky‐Pudlak syndrome |
EXN1106 | Short stature |
EXN1107 | Albinism |
EXN1097 | Congenital cardiopathies |
EXN1098 | Connective tissue diseases |
EXN1101 | Adams-Oliver syndrome |
EXN1093 | Angelman syndrome and and syndromes included in the differential diagnosis |
EXN1088 | Cleft lip and cleft palate |
EXN1090 | Bardet-Biedl syndrome |
EXN1091 | Overgrowth and macrocephaly |
EXN1082 | Limb malformations |
EXN1060 | Coffin-Lowry syndrome |
EXN1061 | Osteogenesis Imperfecta |
EXN1062 | Robinow syndrome |
EXN1064 | Facial Dysostosis |
EXN1054 | Coffin-Siris syndrome |
EXN1055 | Rubinstein-Taybi syndrome |
EXN1051 | Arthrogryposis |
EXN1040 | Blackfan-Diamond congenital erythroblastopenia |
EXN1044 | Sotos syndrome and related syndromes |
EXN1037 | Donnai-Barrow syndrome |
EXN1038 | Microcephaly and pontocerebellar hypoplasia |
EXN1031 | Joint hypermobility |
EXN1032 | Vascular malformations |
EXN1034 | Bone dysplasias |
EXN1022 | Kabuki syndrome |
EXN1016 | Congenital Disorders of Brain Morphogenesis |
EXN1005 | Cornelia de Lange syndrome |
EXN1006 | Craniosynostosis |
EXN1012 | RASopathies |
CGH5001 | UPD7 microsatellite analysis for Sd. Silver russell |
CGH5015 | Analysis of microsatellites for detection of UPD chr15 for Angelman Syndrome |
As referências SEQ correspondem a estudos realizados utilizando o NIMSeq® | |
As referências EXN correspondem a estudos realizados com ExoNIM® |
Para a consulta dos genes associados a cada abordagem e do catálogo completo de serviços, dirija-se ao nosso motor de busca de estudos genéticos