Referência |
Doença |
|---|---|
| MLP1113 | - |
| SEQ1116 | Smith-Lemli-Opitz syndrome |
| ID6003 | - |
| SEQ1103 | Anophthalmia and microphthalmia and anterior segment dysgenesis |
| SEQ1104 | Congenital Cataracts |
| SEQ1097 | Joubert syndrome |
| SEQ1098 | Usher syndrome |
| SEQ1100 | Stickler syndrome |
| SEQ1101 | Hermansky-Pudlak syndrome |
| SEQ1102 | Glaucoma |
| SEQ1094 | Stationary night blindness |
| SEQ1095 | Bardet-Biedl syndrome |
| SEQ1096 | Senior-Loken syndrome |
| SEQ9661 | Werner syndrome |
| SEQ9681 | Wilson disease |
| SEQ9691 | Wolfram Syndrome / Autosomal Dominant Deafness 6/14/38 |
| SEQ9702 | Type 1 autoimmune polyneuropsty, syndrome |
| SEQ9320 | Prothrombin |
| SEQ9380 | Von Hippel Lindau |
| SEQ9651 | Waardenburg syndrome, syndrome |
| SEQ8711 | Long QT syndrome, syndrome |
| SEQ8919 | Mental retardation, autosomal recessive 41 |
| SEQ8471 | Elastic Pseudoxanthoma |
| SEQ8331 | Pitt-Hopkins syndrome |
| SEQ8321 | Pierson's syndrome |
| SEQ8261 | Peters, anomaly |
| SEQ8262 | Peters, anomaly |
| SEQ8271 | Peters-plus syndrome |
| SEQ8111 | Horizontal gaze palsy with progressive scoliosis |
| SEQ7771 | Opitz syndrome |
| SEQ7781 | Opitz-Kaveggia syndrome |
| SEQ7731 | Autosomal dominant progressive external ophthalmoplegia |
| SEQ7732 | Autosomal dominant progressive external ophthalmoplegia |
| SEQ7741 | Oguchi disease |
| SEQ7742 | Oguchi disease |
| SEQ7751 | Ohdo syndrome type SBBYS |
| SEQ7721 | Progressive external ophthalmoplegia |
| SEQ7551 | Norrie's disease |
| SEQ7521 | Nystagmus |
| SEQ7522 | X-linked congenital nystagmus |
| SEQ7401 | Nail Patella Syndrome |
| SEQ7211 | Mowat-Wilson syndrome |
| SEQ7221 | Muckle-Wells syndrome |
| SEQ7133 | Microcornea, myopic chorioretinopathy, and telecanth |
| SEQ7104 | Marfan syndrome |
| SEQ7102 | Marfan syndrome |
| SEQ6959 | Neuronal ceroid lipofuscinosis |
| SEQ6960 | Neuronal ceroid lipofuscinosis |
| SEQ6954 | Neuronal ceroid lipofuscinosis |
| SEQ6955 | Neuronal ceroid lipofuscinosis |
| SEQ6956 | Neuronal ceroid lipofuscinosis |
| SEQ6957 | Neuronal ceroid lipofuscinosis |
| SEQ6958 | Neuronal ceroid lipofuscinosis |
| SEQ6952 | Neuronal ceroid lipofuscinosis |
| SEQ6953 | Neuronal ceroid lipofuscinosis |
| SEQ6508 | Joubert syndrome type 8 |
| SEQ6509 | Joubert syndrome type 9 |
| SEQ6303 | Joubert syndrome type 1 |
| SEQ6502 | Joubert syndrome type 2 |
| SEQ6504 | Joubert syndrome type 4 |
| SEQ6505 | Joubert syndrome type 5 |
| SEQ6506 | Joubert syndrome type 6 |
| SEQ6301 | Joubert syndrome type 10 |
| SEQ6302 | Joubert Syndrome Type 12 |
| SEQ6132 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6131 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6045 | Hyperhomocysteinemia |
| SEQ6029 | Hyperhomocysteinemia |
| 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 |
| SEQ5751 | Griscelli syndrome type 1 |
| SEQ5741 | Gorlin syndrome |
| SEQ5742 | Gorlin syndrome |
| SEQ5671 | GAPO syndrome |
| SEQ5661 | GM1 gangliosidosis type 1 |
| SEQ5581 | TYPE 3 congenital fibrosis of extraocular muscles |
| SEQ5531 | Feingold syndrome |
| SEQ5427 | Floating-Harbor syndrome |
| SEQ5265 | Tuberous sclerosis |
| SEQ5266 | Tuberous sclerosis |
| SEQ5267 | Tuberous sclerosis |
| SEQ5041 | Muscle-eye-brain disease |
| SEQ4971 | Ethylmalonic encephalopathy |
| SEQ4921 | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) |
| SEQ4922 | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) |
| SEQ4923 | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) |
| SEQ4842 | Ectopia Lentis Isolated Autosomal Recessive |
| SEQ4851 | Ectrodactyly, Ectodermal Dysplasia and Palatal Cleft Syndrome type 3 (EEC Type 3) |
| SEQ4598 | Donnai-Barrow syndrome |
| SEQ4841 | Ectopia Lentis Isolated Autosomal Dominant |
| SEQ4571 | Rod-cone retinal dystrophy |
| SEQ4581 | Doyne honeycomb retinal dystrophy, p.Arg345Tr mutation by EFEMP1 gene sequencing |
| SEQ4582 | Doyne's honeycomb retinal dystrophy |
| SEQ4494 | Vitelliform Macular Dystrophy in its adult form |
| SEQ4471 | Sorsby's dystrophy of the fundus |
| SEQ4481 | Congenital hereditary endothelial dystrophy type 2 |
| SEQ4491 | Macular dystrophy (Stargardt type 3) |
| SEQ4492 | Retinal Macular Dystrophy, Type 2 |
| SEQ4493 | Vitelliform Macular Dystrophy |
| SEQ4451 | Corneal dystrophy |
| SEQ4452 | Reis-Buckler corneal dystrophy, mutations in codons 124 and 555 TGFBI gene |
| SEQ4453 | Reis-Buckler corneal dystrophy |
| SEQ4454 | Posterior polymorphic corneal dystrophy |
| SEQ4461 | Bothnia retinal dystrophy |
| SEQ4411 | Lymphedema distichiasis and cleft palate |
| SEQ4327 | Septo-optic dysplasia |
| SEQ4329 | Septo-optic dysplasia |
| SEQ4231 | Complex cortical dysplasia with other brain malformations |
| SEQ4007 | Mitochondrial DNA depletion |
| SEQ3741 | Galactokinase deficiency |
| SEQ3071 | Choroideremia |
| SEQ2941 | Cohen syndrome, c.3348_3349delCT mutation VPS13B gene |
| SEQ2942 | Cohen syndrome |
| SEQ2961 | Coloboma-Renal Syndrome |
| SEQ2911 | Coats disease |
| SEQ2921 | Cockayne syndrome |
| SEQ2922 | Cockayne syndrome |
| SEQ2923 | Cockayne syndrome |
| SEQ2831 | Chediak-Higashi syndrome |
| SEQ2651 | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome |
| SEQ2617 | CADASIL syndrome |
| SEQ2601 | C syndrome |
| SEQ2421 | BRESEK syndrome |
| SEQ2341 | Blau syndrome |
| SEQ2351 | Reverse blepharophimosis-ptosis-epicanthus |
| SEQ2381 | Branchial-oculo-facial syndrome |
| SEQ2271 | Beals Syndrome (Congenital Contractural Arachnodactyly) |
| SEQ2230 | Bardet-Biedl syndrome type 10 |
| SEQ2231 | Bardet-Biedl syndrome type 11 |
| SEQ2232 | Bardet-Biedl syndrome type 12 |
| 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 |
| SEQ1981 | Optic atrophy |
| SEQ1982 | Dominant Optic Atrophy Type 1 |
| SEQ1983 | Dominant Optic Atrophy Type 3 |
| SEQ1984 | Optic Atrophy Type 7 |
| SEQ1905 | Episodic ataxia type 2 |
| SEQ1906 | Episodic ataxia type 5 |
| SEQ1907 | Episodic ataxia type 6 |
| SEQ1903 | Episodic Ataxia Type 1 |
| SEQ1741 | Anophthalmia - microphthalmia, isolated |
| SEQ1742 | Anophthalmia - microphthalmia, isolated |
| SEQ1661 | Thiamine-sensitive megaloblastic anemia syndrome |
| SEQ1547 | Leber Congenital Amaurosis |
| SEQ1548 | Leber Congenital Amaurosis |
| SEQ1549 | Leber Congenital Amaurosis |
| SEQ1550 | Leber Congenital Amaurosis |
| SEQ1542 | Leber Congenital Amaurosis, codon 837, 838 and 839 GUCY2D gene mutations |
| SEQ1543 | Leber Congenital Amaurosis |
| SEQ1544 | Leber Congenital Amaurosis |
| SEQ1545 | Leber Congenital Amaurosis |
| SEQ1546 | Leber Congenital Amaurosis |
| SEQ1535 | Allan-Herndon-Dudley syndrome |
| SEQ1541 | Leber Congenital Amaurosis, p.Asp226Asn gene IMPDH1 mutation |
| SEQ1515 | Alport syndrome (X-linked) |
| SEQ1400 | Alagille Syndrome Type 1 |
| SEQ1402 | Alagille Syndrome Types 1 and 2 |
| SEQ1412 | Albinism isolated and syndromic forms |
| SEQ1414 | Oculocutaneous albinism type 2 |
| SEQ1339 | Achromatopsia |
| SEQ1340 | Achromatopsia |
| SEQ1334 | Achromatopsia, mutation c.1148delC CNGB3 gene |
| SEQ1335 | Achromatopsia |
| SEQ1336 | Achromatopsia |
| SEQ1337 | NimSeq® SC CNGA3 gene. Achromatopsia |
| SEQ1338 | NimSeq® SC GNAT2 gene. Achromatopsia |
| SEQ1333 | Achondroplasia |
| SEQ1263 | Methylmalonic acidemia, vitamin B12 sensitive, type cbl B |
| SEQ1241 | Isovaleric acidemia |
| SEQ1089 | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
| SEQ1211 | Abetalipoproteinemia |
| SEQ1062 | Retinoblastoma |
| SEQ1047 | Retinitis pigmentosa |
| SEQ1032 | Neuro-Ophthalmology |
| SEQ1026 | Cerebral lipofuscinosis |
| SEQ1013 | Mucocutaneous venous malformations / Congenital glaucoma |
| MLP3501 | Von Hippel-Lindau syndrome |
| MLP3550 | Waardenburg syndrome |
| MLP3621 | Wilson disease |
| MLP3315 | Smith-Lemli-Opitz, syndrome of |
| MLP3341 | Autosomic dominant Stickler syndrome |
| MLP3121 | Retinoblastoma |
| MLP3031 | Pseudoxanthoma elasticum |
| MLP3102 | Autosomal dominant retinitis pigmentosa |
| MLP3111 | X-linked retinitis pigmentosa |
| MLP2801 | Opitz syndrome |
| MLP2821 | Osteoporosis-Pseudoglioma syndrome / Exudative vitreoretinopathy |
| MLP2731 | Neurodegeneration with brain iron accumulation |
| MLP2701 | Nail Patella syndrome |
| MLP2711 | Nephronophthisis 1 / Joubert syndrome type 4 |
| MLP2571 | Syndromic microphthalmia type 3 |
| MLP2521 | Hereditary ocular abnormalities |
| MLP2531 | Mitochondrial DNA maintenance |
| MLP2541 | Marfan syndrome |
| MLP2542 | Marfan syndrome |
| MLP2205 | Mediterranean fever family |
| MLP2001 | Gorlin syndrome |
| MLP2035 | X-Linked Congenital nystagmus type 1 |
| MLP1831 | Tuberous sclerosis 1 |
| MLP1832 | Tuberous sclerosis 2 |
| MLP1711 | Optic atrophy |
| MLP1721 | Macular dystrophy |
| MLP1651 | Mitochondrial DNA depletion Syndrome |
| MLP1454 | X-linked Charcot-Marie-Tooth disease |
| MLP1104 | Usher syndrome |
| MLP1081 | Ophthalmogenetic disorders |
| MLP1011 | Alagille syndrome type 1 |
| MLP1021 | Ocular albinism type 1 |
| MLP1031 | Oculocutaneous albinism type II |
| MIT1501 | Leber's optic neuropathy (LOHN) |
| MIT1502 | Neuropathy, Ataxia and Retinitis Pigmentosa (NARP)/Leber's optic neuropathy (LOHN) |
| MLP1001 | Aarskog-Scott syndrome |
| EXN1179 | X-linked retinal dystrophies |
| EXN1180 | Stationary night blindness |
| EXN1168 | GLOBAL Retinal dystrophies |
| EXN1143 | Optic atrophy |
| EXN1140 | Neuro-Ophthalmology |
| EXN1142 | Vitelliform macular dystrophy |
| EXN1124 | Septo-optic dysplasia |
| EXN1127 | Waardenburg syndrome |
| EXN1110 | Hermansky‐Pudlak syndrome |
| EXN1102 | Bietti crystalline dystrophy (BCD) |
| EXN1107 | Albinism |
| EXN1099 | North Carolina Macular Dystrophy |
| EXN1087 | Glaucoma |
| EXN1090 | Bardet-Biedl syndrome |
| EXN1083 | Macular dystrophy and Stargadt disease |
| EXN1084 | Vitreoretinopathy |
| EXN1085 | Congenital cataracts |
| EXN1072 | Endothelial dystrophy of the cornea |
| EXN1067 | Brain Lipofuscinosis |
| EXN1048 | Leber Congenital Amaurosis |
| EXN1049 | Anophthalmia, Microphthalmia and anterior segment dysgenesis |
| EXN1035 | Usher syndrome |
| EXN1037 | Donnai-Barrow syndrome |
| EXN1013 | Pigmentary Retinosis |
| EXN1021 | Joubert syndrome |
| EXN1004 | Achromatopsia, Cone-rod dystrophy |
| As referências SEQ correspondem a estudos realizados utilizando o NIMSeq® | |
| As referências EXN correspondem a estudos realizados com ExoNIM® | |
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