Referência |
Doença |
|---|---|
| SEQ1116 | Smith-Lemli-Opitz syndrome |
| MLP1025 | Sotos syndrome |
| EXN1181 | Diaphragmatic hernia |
| TRP1501 | Fragile X syndrome |
| SEQ1103 | Anophthalmia and microphthalmia and anterior segment dysgenesis |
| SEQ1104 | Congenital Cataracts |
| SEQ1100 | Stickler syndrome |
| SEQ1101 | Hermansky-Pudlak syndrome |
| SEQ9317 | Thrombophilia |
| SEQ9651 | Waardenburg syndrome, 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) |
| SEQ8461 | Pseudohypoparathyroidism |
| SEQ8421 | Prune Belly Syndrome |
| SEQ8431 | Pseudoachondroplasia |
| SEQ8401 | Proteus syndrome |
| SEQ8415 | Preauricular bulge |
| SEQ8331 | Pitt-Hopkins syndrome |
| SEQ8291 | Pycnodysostosis |
| SEQ8301 | Clubfoot due to PITX1 point mutation |
| SEQ8311 | Piebaldism |
| SEQ8232 | Pelizaeus disease - Merzbacher |
| SEQ8251 | Perlman's syndrome |
| SEQ8261 | Peters, anomaly |
| SEQ8262 | Peters, anomaly |
| SEQ8271 | Peters-plus syndrome |
| SEQ8222 | Parrault syndrome |
| 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 |
| SEQ7763 | Omenn syndrome |
| SEQ7764 | Omenn syndrome |
| SEQ7771 | Opitz syndrome |
| SEQ7781 | Opitz-Kaveggia syndrome |
| SEQ7791 | Imperfect osteogenesis |
| SEQ7751 | Ohdo syndrome type SBBYS |
| SEQ7762 | Omenn syndrome |
| 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) |
| SEQ7491 | Neuropathy, giant axonal |
| SEQ7501 | Niemann-Pick disease |
| SEQ7502 | Niemann-Pick disease (Type A and B) |
| SEQ7503 | Niemann-Pick disease (type C1 and D) |
| SEQ7504 | Niemann-Pick disease (type C2) |
| SEQ7505 | Niemann-Pick disease (types C and D) |
| 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 |
| SEQ7241 | Mucopolysaccharidosis |
| SEQ7242 | Mucopolysaccharidosis Type 1H, 1S (Hurler Syndrome) |
| SEQ7211 | Mowat-Wilson syndrome |
| SEQ7221 | Muckle-Wells syndrome |
| SEQ7131 | Congenital myasthenia |
| SEQ7132 | Congenital myasthenia |
| 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 |
| SEQ6959 | Neuronal ceroid lipofuscinosis |
| SEQ6960 | Neuronal ceroid lipofuscinosis |
| SEQ6971 | Lissencephaly |
| SEQ6972 | Lissencephaly |
| SEQ6982 | X-linked lissencephaly |
| 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 |
| SEQ6842 | sg Leopard syndrome |
| SEQ6811 | Laron's syndrome |
| SEQ6821 | Larsen syndrome |
| SEQ6841 | Leopard syndrome |
| SEQ6612 | Kallman syndrome type II |
| SEQ6613 | Kallman syndrome type II |
| SEQ6615 | Klippel-Feil syndrome |
| SEQ6621 | Krabbe disease |
| SEQ6601 | Kabuki syndrome |
| SEQ6602 | Kabuki syndrome |
| SEQ6606 | Kabuki syndrome |
| SEQ6611 | Kallman syndrome type I |
| SEQ6295 | Osteogenesis imperfecta type V |
| SEQ6174 | Harlequin fetus congenital ichthyosis |
| SEQ6162 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6163 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6164 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6165 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6166 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6167 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6132 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6151 | Hutchinson-Gilford Progeria |
| SEQ6161 | Autosomal Recessive Congenital Ichthyosis |
| SEQ6110 | Holoprosencephaly |
| SEQ6111 | Holoprosencephaly |
| SEQ6113 | Holoprosencephaly |
| SEQ6114 | Holoprosencephaly |
| SEQ6115 | Holoprosencephaly |
| SEQ6121 | Holt-Oram syndrome |
| SEQ6131 | Homocystinuria due to cystathionine beta-synthase deficiency |
| 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 |
| SEQ6051 | Type II hyperprolinemia |
| SEQ6071 | Hypochondroplasia |
| SEQ6045 | Hyperhomocysteinemia |
| SEQ6012 | Hyperekplexia syndrome or Exaggerated Startle syndrome |
| SEQ6013 | Hyperekplexia syndrome or Exaggerated Startle syndrome |
| SEQ6022 | Hyperphenylalaninemia due to BH4 deficiency |
| SEQ6029 | Hyperhomocysteinemia |
| SEQ5981 | Hydroletal Syndrome |
| SEQ6011 | Hyperekplexia syndrome or Exaggerated Startle syndrome |
| SEQ5951 | Periventricular nodular heterotopia |
| SEQ5961 | X-linked periventricular heterotopia |
| SEQ5968 | Hydranencephaly / Microlissencephaly |
| 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 |
| SEQ5751 | Griscelli syndrome type 1 |
| SEQ5911 | Alternating hemiplegia of childhood TYPE 1 |
| SEQ5912 | Alternating hemiplegia of childhood TYPE 2 |
| SEQ5741 | Gorlin syndrome |
| SEQ5742 | Gorlin syndrome |
| SEQ5671 | GAPO syndrome |
| SEQ5641 | Galactosemia |
| SEQ5651 | Galactosialidosis |
| SEQ5661 | GM1 gangliosidosis type 1 |
| SEQ5561 | Fibrodysplasia ossificans progressiva |
| SEQ5511 | Factor V (Leiden) |
| SEQ5521 | Fanconi-Bickel syndrome |
| SEQ5531 | Feingold syndrome |
| SEQ5551 | Fibrodysplasia ossificans progressiva |
| SEQ5427 | Floating-Harbor syndrome |
| SEQ5431 | Fructosemia |
| SEQ5291 | Multiple Exostoses |
| SEQ5292 | Multiple Exostoses |
| SEQ5281 | Sclerosteosis |
| SEQ5201 | Familial Benign Neonatal Epilepsy |
| SEQ5202 | Familial Benign Neonatal Epilepsy |
| SEQ5171 | Lateral temporal lobe epilepsy, autosomal dominant |
| SEQ5181 | Juvenile myoclonic epilepsy |
| SEQ5182 | Juvenile myoclonic epilepsy |
| SEQ5191 | Progressive myoclonic epilepsy type 3 |
| SEQ5154 | Autosomal Dominant Nocturnal Frontal Epilepsy |
| SEQ5155 | Autosomal Dominant Nocturnal Frontal Epilepsy |
| SEQ5161 | Generalized Epilepsy with Febrile Seizures Plus (GEFS) |
| SEQ5162 | Generalized Epilepsy with Febrile Seizures Plus (GEFS) |
| SEQ5164 | Generalized Epilepsy with Febrile Seizures Plus (GEFS) |
| SEQ5141 | Familial focal epilepsy with variable foci |
| SEQ5151 | Autosomal Dominant Nocturnal Frontal Epilepsy |
| SEQ5152 | Autosomal Dominant Nocturnal Frontal Epilepsy |
| SEQ5153 | Autosomal Dominant Nocturnal Frontal Epilepsy |
| SEQ5121 | Simple Epidermolysis Bullosa with Muscular Dystrophy |
| SEQ5131 | Pyridoxine Dependent Epilepsy |
| SEQ5132 | Pyridoxine Dependent Epilepsy |
| SEQ5139 | Focal epilepsy with language disorder |
| SEQ5093 | Dystrophic Epidermolysis Bullosa |
| SEQ5041 | Muscle-eye-brain disease |
| SEQ4983 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ4984 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ4981 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ4982 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ4946 | Evanescent White Substance Encephalopathy |
| SEQ4941 | Evanescent White Substance Encephalopathy, p.Arg113His mutation by EIF2B5 gene sequencing |
| SEQ4942 | Evanescent White Substance Encephalopathy |
| SEQ4943 | Evanescent White Substance Encephalopathy |
| SEQ4944 | Evanescent White Substance Encephalopathy |
| SEQ4945 | Evanescent White Substance Encephalopathy |
| SEQ4901 | Type 2 primordial osteodysplastic microcephalic dwarfism |
| SEQ4911 | Childhood epileptic encephalopathy type 5 |
| SEQ4913 | Early-onset childhood epileptic encephalopathy |
| SEQ4851 | Ectrodactyly, Ectodermal Dysplasia and Palatal Cleft Syndrome type 3 (EEC Type 3) |
| SEQ4598 | Donnai-Barrow syndrome |
| SEQ4601 | Dravet syndrome (Severe myoclonic epilepsy of childhood) |
| 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) |
| SEQ4571 | Rod-cone retinal dystrophy |
| 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 |
| 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 |
| SEQ4222 | Campomelica Dysplasia |
| SEQ4251 | Craniofrontonasal Dysplasia |
| SEQ4261 | Diastrophic 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) |
| SEQ4081 | Congenital diarrhea with malabsorption due to insufficiency of enteroendocrine cells |
| SEQ4091 | Congenital Diarrhea with Chlorine Loss |
| SEQ4101 | Familial congenital intractable diarrhea with epithelial abnormalities |
| SEQ4111 | Ovarian digenesis |
| SEQ4112 | Ovarian digenesis |
| SEQ4051 | Neurohypophyseal diabetes insipidus |
| SEQ4061 | Permanent neonatal diabetes mellitus |
| SEQ4062 | Transient neonatal diabetes mellitus |
| SEQ4063 | Transient neonatal diabetes mellitus |
| SEQ4064 | Transient neonatal diabetes mellitus |
| SEQ4015 | Acral skin scaling, syndrome |
| SEQ3993 | Dent disease |
| SEQ4007 | Mitochondrial DNA depletion |
| SEQ4011 | Desbuquois syndrome |
| SEQ3911 | Familial LCAT (lecithin-cholesterol-acyl-transferase) deficiency |
| SEQ3921 | Autosomal dominant nonsyndromic intellectual deficit |
| SEQ3931 | Severe intellectual deficit and progressive spastic paraplegia |
| SEQ3941 | X-linked intellectual deficit - cerebellar hypoplasia |
| SEQ3951 | Partial methylmalonyl-CoA mutase deficiency, mutation c.322C> T gene MUT |
| SEQ3872 | Pulmonary surfactant deficiency |
| SEQ3873 | Pulmonary surfactant deficiency |
| SEQ3875 | Pulmonary surfactant deficiency |
| SEQ3876 | Pulmonary surfactant deficiency |
| SEQ3881 | Zinc deficiency, infantile, transitory |
| SEQ3841 | Mitochondrial trifunctional protein deficiency |
| SEQ3851 | Succinic semialdehyde dehydrogenase deficiency |
| SEQ3861 | Succinyl-CoA acetoacetate transferase deficiency |
| SEQ3781 | Creatinine deficiency |
| SEQ3683 | Carnitine palmitoyltransferase II deficiency |
| SEQ3711 | Bifunctional enzyme deficiency |
| SEQ3721 | Phosphoenolpyruvate Carboxykinase Deficiency |
| SEQ3641 | Short chain acyl-CoA dehydrogenase deficiency |
| SEQ3680 | Carnitine palmitoyltransferase deficiency |
| SEQ3681 | Carnitine palmitoyltransferase deficiency |
| SEQ3611 | Congenital protein C deficiency |
| SEQ3621 | Long-chain fatty acid 3-hydroxyacyl-CoA dehydrogenase deficiency, mutation p.Glu510Gln HADHA gene |
| SEQ3622 | Long-chain fatty acid 3-hydroxyacyl-CoA dehydrogenase deficiency |
| SEQ3631 | Very long chain fatty acid acyl-CoA dehydrogenase deficiency |
| SEQ3581 | Glucose transporter type 1 deficiency |
| SEQ3591 | Isolated type IB growth hormone deficiency |
| SEQ3541 | Sulfite oxidase deficiency caused by molybdenum cofactor deficiency |
| SEQ3551 | Xanthine dehydrogenase deficiency |
| SEQ3561 | Interleukin 1 receptor antagonist deficiency |
| SEQ3511 | ACYL-CoA dehydrogenase deficiency |
| SEQ3412 | Congenital lactase deficiency |
| SEQ3362 | Congenital Glycosylation Defect type 1B |
| SEQ3363 | Congenital Glycosylation Defect type 1C |
| SEQ3371 | Congenital Heart Defects |
| SEQ3401 | Congenital deficiency of sacarase-isomaltase |
| SEQ3411 | Congenital lactase deficiency, c.4170T>A (p.Tyr1390Ter) LCT gene |
| SEQ3131 | Crouzon syndrome with Acanthosis Nigricans, mutation p.Ala391Glu FGFR3 gene |
| SEQ3132 | Crouzon Syndrome with Acanthosis Nigricans |
| SEQ3141 | Crouzon syndrome, syndrome |
| SEQ3351 | Darier's disease |
| SEQ3361 | Congenital Glycosylation Defect type 1A |
| 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 |
| SEQ3024 | Benign familial neonatal-infantile seizures |
| SEQ3061 | Cornelia de Lange syndrome |
| SEQ3001 | Blomstrand-type chondrodysplasia |
| SEQ3011 | Lethal congenital contractures syndrome type 1 |
| SEQ3021 | Benign familial neonatal-infantile seizures |
| SEQ3022 | Benign familial neonatal-infantile seizures |
| SEQ3023 | Benign familial neonatal-infantile seizures |
| 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 |
| SEQ2911 | Coats disease |
| SEQ2921 | Cockayne syndrome |
| SEQ2922 | Cockayne syndrome |
| SEQ2923 | Cockayne syndrome |
| SEQ2931 | Coffin-Lowry syndrome |
| SEQ2891 | Citrullinemia |
| SEQ2892 | Classic citrullinemia |
| SEQ2893 | Late-onset citrullinemia type II |
| SEQ2901 | CK syndrome |
| SEQ2851 | Chudley-McCullough syndrome |
| SEQ2861 | Cinca Syndrome (Childhood Multisystemic Inflammatory Disease) |
| SEQ2821 | CHARGE syndrome |
| SEQ2831 | Chediak-Higashi 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 |
| SEQ2271 | Beals Syndrome (Congenital Contractural Arachnodactyly) |
| SEQ2281 | NIMSeq® sg SC CDKN1C gene. Beckwith-Wiedemann syndrome |
| SEQ2233 | Bardet-Biedl syndrome type 13 |
| SEQ2241 | Bardet-Biedl syndrome type 1 |
| SEQ2041 | Axenfeld-Riegeer syndrome type 1 |
| SEQ2043 | Axenfeld-Riegeer syndrome type 3 |
| SEQ1991 | ATR-X syndrome |
| SEQ2001 | X-linked autism |
| SEQ2015 | Familial autoinflammatory type Behcer-likem syndrome |
| SEQ1982 | Dominant Optic Atrophy Type 1 |
| SEQ1983 | Dominant Optic Atrophy Type 3 |
| SEQ1984 | Optic Atrophy Type 7 |
| SEQ1929 | Spinocerebellar Ataxia Type 28 |
| SEQ1951 | Ataxia Telangiectasia |
| SEQ1961 | Ataxia Telangiectasia like |
| SEQ1842 | Distal arthrogryposis type 2B |
| SEQ1844 | Distal arthrogryposis type 7 |
| SEQ1851 | Childhood progressive pseudo-rheumatoid arthropathy |
| SEQ1861 | X-linked Asperger syndrome |
| SEQ1811 | Argininemia (Arginase Deficiency) |
| SEQ1841 | Distal arthrogryposis type 2A |
| 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 |
| SEQ1642 | Congenital dyserythropoietic anemia type 1 |
| SEQ1643 | Congenital dyserythropoietic anemia type 2 |
| SEQ1644 | Congenital dyserythropoietic anemia type 3 |
| SEQ1641 | Congenital Dyserythropoietic Anemia |
| SEQ1591 | Andermann syndrome, c.2436delC mutation by SLC12A6 gene sequencing |
| SEQ1601 | Andersen syndrome |
| SEQ1534 | Alzheimer's disease |
| SEQ1501 | Universal alopecia |
| SEQ1511 | Alport syndrome |
| SEQ1513 | Alport syndrome |
| SEQ1514 | Alport syndrome |
| SEQ1471 | Alpha-Thalassemia |
| SEQ1431 | Alcardi-Goutieres syndrome |
| SEQ1432 | Alcardi-Goutieres syndrome |
| SEQ1433 | Alcardi-Goutieres syndrome |
| SEQ1434 | Alcardi-Goutieres syndrome |
| SEQ1435 | Alcardi-Goutieres syndrome |
| SEQ1400 | Alagille Syndrome Type 1 |
| SEQ1402 | Alagille Syndrome Types 1 and 2 |
| SEQ1412 | Albinism isolated and syndromic forms |
| SEQ1414 | Oculocutaneous albinism type 2 |
| SEQ1421 | Alkaptonuria |
| SEQ1389 | Lissencephaly |
| SEQ1390 | Early-onset myopia, areflexia, respiratory distress, and dysphagia syndrome (EMARDD) |
| SEQ1391 | Renal agenesis |
| SEQ1395 | Aicardi Goutieres syndrome |
| SEQ1385 | Fatty Acid Oxidation Syndrome |
| SEQ1386 | Tyrosinemia |
| SEQ1387 | Congenital disorders of glycosylation |
| SEQ1378 | Maple syrup urine disease |
| SEQ1373 | Arthrogryposis |
| SEQ1376 | Coenzyme Q10 deficiency |
| SEQ1361 | Primary pigmented nodular adrenocortical disease |
| SEQ1362 | Primary pigmented nodular adrenocortical disease |
| SEQ1351 | Adams-Oliver syndrome |
| SEQ1352 | Adams-Oliver syndrome |
| SEQ1356 | Adams-Oliver syndrome |
| SEQ1341 | Acrodysostosis 1 and 2, with or without hormonal resistance |
| SEQ1325 | Changes in folate and homocysteine metabolism |
| 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 |
| SEQ1302 | Fumaric aciduria |
| SEQ1311 | Hereditary orotic aciduria |
| SEQ1315 | Acidemia/Organic Aciduria and Cobalamin deficiency |
| SEQ1321 | Achondrogenesis type 1b |
| SEQ1322 | Achondrogenesis type II |
| SEQ1283 | Recessive Distal Renal Tubular Acidosis |
| SEQ1291 | 2-hydroxyglutaric aciduria |
| SEQ1301 | Fumaric aciduria, mutation c1431_1433dupAAA FH gene |
| SEQ1261 | Methylmalonic acidemia with homocystinuria, type cbl F |
| SEQ1267 | Mevalonic acidemia syndrome, porokeratosis 3, hyper-IgD syndrome |
| SEQ1271 | Propionic acidemia |
| SEQ1272 | Propionic acidemia |
| SEQ1255 | Methylmalonic acidemia |
| SEQ1256 | Methylmalonic acidemia |
| SEQ1257 | Methylmalonic acidemia |
| SEQ1259 | Methylmalonic acidemia - homocystinuria, type cbl C, mutation c.271dupA MMACHC gene |
| SEQ1260 | Methylmalonic acidemia - homocystinuria, type cbl C |
| SEQ1241 | Isovaleric acidemia |
| SEQ1251 | Methylmalonic acidemia, mutation c.322C>T MUT |
| SEQ1252 | Methylmalonic acidemia |
| SEQ1253 | Methylmalonic acidemia |
| SEQ1254 | Methylmalonic acidemia |
| SEQ1225 | Greig Cefalopolisindactilia syndrome, Pallister-Hall syndrome, postaxial polydactyly types A and B and prefacial polydactyly type IV |
| SEQ1230 | Glutaric acidemia type 1, GCDH |
| SEQ1231 | Glutaric acidemia |
| SEQ1233 | Glutaric acidemia type 3 |
| SEQ1234 | Glutaric acidemia type 4 |
| SEQ1087 | Ambiguous Genitalia |
| SEQ1088 | Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus |
| SEQ1089 | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
| SEQ1201 | Aarskog syndrome |
| SEQ1221 | Aceruloplasminemia |
| SEQ1084 | Noonan syndrome |
| SEQ1086 | Ataxia - Oculomotor apraxia type 4 / Epileptic encephalopathy of early childhood |
| SEQ1077 | Phenylketonuria |
| SEQ1073 | Cleft Hand / Foot Malformation 1 with Sensorineural Hearing Loss |
| SEQ1048 | Spinocerebral ataxia |
| SEQ1037 | Alternating hemiplegia of childhood |
| SEQ1025 | Congenital myasthenia |
| SEQ1002 | 3-M syndrome |
| SEQ1011 | 3-M syndrome |
| SEQ1012 | 3-M syndrome |
| 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 |
| MLP3701 | Fragile X syndrome |
| MLP3550 | Waardenburg 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 |
| MLP3301 | Segawa disease |
| MLP3302 | Segawa disease / myoclonic dystonia 11 syndrome |
| MLP3101 | Resistance to insulin-like growth factor I |
| MLP3001 | Pompe disease |
| MLP2931 | Pelizaeus-Merzbacher disease/ Spastic paraplegia type 2 |
| MLP2971 | Pitt-Hopkins syndrome / Congenital variant of Rett syndrome |
| MLP2751 | Niemann-Pick disease type C |
| 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 |
| MLP2541 | Marfan syndrome |
| MLP2542 | Marfan syndrome |
| MLP2421 | Heart and limb malformations |
| MLP2431 | X-linked lissencephaly |
| MLP2441 | Loeys-Dietz syndrome |
| MLP2511 | Limb malformations |
| MLP2311 | Kallmann 1 syndrome |
| MLP2321 | Kleefstra syndrome |
| MLP2341 | Krabbe disease |
| MLP2205 | Mediterranean fever family |
| MLP2250 | Hereditary fructose intolerance |
| MLP2301 | Kabuki syndrome |
| MLP2131 | X-linked hypophosphatemia |
| MLP2001 | Gorlin syndrome |
| MLP1821 | Autosomal Dominant Lateral Temporal Lobe Epilepsy |
| MLP1751 | Dravet syndrome |
| MLP1811 | Glycine encephalopathy |
| MLP1711 | Optic atrophy |
| MLP1651 | Mitochondrial DNA depletion Syndrome |
| MLP1655 | Diabetes type MODY. |
| MLP1661 | DiGeorge syndrome |
| MLP1665 | Gonadal dysgenesis |
| MLP1551 | CRI-DU-CHAT syndrome. |
| MLP1611 | Fumarase deficiency |
| MLP1621 | Ornithine transcarbamylase deficiency |
| MLP1631 | X-linked creatine transporter deficiency |
| MLP1471 | Cohen syndrome |
| MLP1481 | Cholestasis |
| MLP1501 | Cornelia de Lange syndrome |
| MLP1511 | Cowden disease |
| MLP1454 | X-linked Charcot-Marie-Tooth disease |
| MLP1401 | Gonadal dysgenesis |
| MLP1211 | Beckwith-Wiedemann syndrome / Russell-Silver syndrome |
| MLP1096 | FANCA |
| MLP1097 | Temple syndrome |
| MLP1071 | Angelman syndrome / Prader Willi syndrome |
| MLP1091 | Ataxia-Telangiectasia |
| MLP1011 | Alagille syndrome type 1 |
| MLP1021 | Ocular albinism type 1 |
| MLP1031 | Oculocutaneous albinism type II |
| MLP1051 | Alport syndrome/ Hereditary nephritis |
| MLP1001 | Aarskog-Scott syndrome |
| EXN5008 | Generalised epilepsy with febrile seizures plus |
| EXN5010 | Focal Epilepsy |
| EXN5011 | Benign familial neonatal-infantile seizures |
| EXN5003 | Frontal Lobe Nocturnal Epilepsy |
| EXN5005 | Progressive Myoclonic Epilepsy |
| EXN5006 | Juvenile Myoclonic Epilepsy |
| EXN1170 | Brachydactyly and Syndactyly |
| EXN1171 | Metaphyseal dysplasia |
| EXN1160 | Klippel-Feil syndrome |
| EXN1165 | Acidemia / Organic Aciduria and Cobalamin deficiency |
| EXN1166 | Alterations in the Metabolism of Purines and Pyrimidines |
| EXN1159 | Maple syrup urine disease |
| EXN1144 | VACTERL/VATER association and syndromes included in the differential diagnosis |
| EXN1148 | Orofaciodigital syndromes |
| EXN1129 | Congenital disorders of glycosylation |
| EXN1130 | Hypogonadotropic hypogonadism |
| EXN1134 | Deficiency of sulfite oxidase, molybdenum cofactor and xanthine dehydrogenase |
| EXN1135 | Pre-auricular lump |
| EXN1136 | Non-ketotic hyperglycemia - Glycine encephalopathy |
| EXN1121 | Jarcho Levin syndrome |
| EXN1124 | Septo-optic dysplasia |
| EXN1125 | Alterations of folate and homocysteine metabolism |
| EXN1127 | Waardenburg syndrome |
| EXN1113 | Hypercalcaemia |
| EXN1116 | Meckel syndrome |
| EXN1110 | Hermansky‐Pudlak syndrome |
| EXN1103 | Alport syndrome |
| EXN1106 | Short stature |
| EXN1107 | Albinism |
| EXN1097 | Congenital cardiopathies |
| EXN1101 | Adams-Oliver syndrome |
| EXN1092 | Alternating hemiplegia of childhood |
| EXN1093 | Angelman syndrome and and syndromes included in the differential diagnosis |
| EXN1088 | Cleft lip and cleft palate |
| EXN1091 | Overgrowth and macrocephaly |
| EXN1080 | Congenital diarrhea or early-onset chronic diarrhea |
| EXN1082 | Limb malformations |
| EXN1078 | Autism |
| EXN1074 | X-linked intellectual disability |
| EXN1065 | Congenital myasthenia |
| EXN1060 | Coffin-Lowry syndrome |
| EXN1061 | Osteogenesis Imperfecta |
| EXN1062 | Robinow syndrome |
| EXN1064 | Facial Dysostosis |
| EXN1054 | Coffin-Siris syndrome |
| EXN1055 | Rubinstein-Taybi syndrome |
| EXN1058 | Lysosomal and Peroxisomal Diseases |
| EXN1051 | Arthrogryposis |
| EXN1044 | Sotos syndrome and related syndromes |
| EXN1037 | Donnai-Barrow syndrome |
| EXN1038 | Microcephaly and pontocerebellar hypoplasia |
| EXN1034 | Bone dysplasias |
| EXN1022 | Kabuki syndrome |
| EXN1023 | Congenital ichthyosis |
| EXN1016 | Congenital Disorders of Brain Morphogenesis |
| EXN1005 | Cornelia de Lange syndrome |
| EXN1006 | Craniosynostosis |
| EXN1007 | Intellectual disability/mental retardation |
| EXN1012 | RASopathies |
| CGH5001 | UPD7 microsatellite analysis for Sd. Silver russell |
| CGH5015 | Analysis of microsatellites for detection of UPD chr15 for Angelman Syndrome |
| EXN1001 | Aicardi-Goutieres 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
