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MLP1108 Ehlers-Danlos syndrome
SEQ1105 Phakomatosis
PRE7004 Tuberous sclerosis
SEQ1092 Phakomatosis
SEQ1101 Hermansky-Pudlak syndrome
SEQ9651 Waardenburg syndrome, syndrome
SEQ9661 Werner syndrome
SEQ9301 Polymorphic catecholaminergic ventricular tachycardia (CPVT)
SEQ8492 Pterygium Syndrome (Lethal Forms)
SEQ8493 Pterygium Syndrome (Lethal Forms)
SEQ8471 Elastic Pseudoxanthoma
SEQ8481 Pustular psoriasis 14
SEQ8491 Pterygium Syndrome (Lethal Forms)
SEQ8401 Proteus syndrome
SEQ8411 Erythropoietic protoporphyria
SEQ8412 Erythropoietic protoporphyria
SEQ8421 Prune Belly Syndrome
SEQ8351 Cutaneous Porphyria tardive
SEQ8361 Congenital erythropoietic porphyria
SEQ8371 Porphyria variegata
SEQ8335 Polyarteritis nodosa / Sneddon syndrome
SEQ8291 Pycnodysostosis
SEQ8311 Piebaldism
SEQ8181 Parkes Weber syndrome
SEQ8101 Papillon-Lefevre syndrome
SEQ7851 Oto-palato-digital syndrome type 2
SEQ7762 Omenn syndrome
SEQ7763 Omenn syndrome
SEQ7764 Omenn syndrome
SEQ7511 Nijmegen syndrome
SEQ7512 Nijmegen syndrome
SEQ7421 Neurofibromatosis-like syndromes
SEQ7423 Neurofibromatosis type 2
SEQ7401 Nail Patella Syndrome
SEQ7211 Mowat-Wilson syndrome
SEQ7105 Marshall-Smith syndrome
SEQ7121 MENKES syndrome
SEQ6932 Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 1
SEQ6933 Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 2
SEQ6934 Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 3
SEQ6935 Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 4
SEQ6936 Acquired partial lipodystrophy (Barraquer-Simons syndrome)
SEQ6841 Leopard syndrome
SEQ6842 sg Leopard syndrome
SEQ6831 Legius syndrome (Neurofibromatosis Type 1-like)
SEQ6178 Ichthyosis vulgaris with autosomal dominant transmission
SEQ6167 Autosomal Recessive Congenital Ichthyosis
SEQ6169 Lamellar ichthyosis
SEQ6174 Harlequin fetus congenital ichthyosis
SEQ6175 Superficial epidermolytic ichthyosis
SEQ6176 X-linked ichthyosis
SEQ6177 Ichthyosis vulgaris with autosomal dominant transmission
SEQ6161 Autosomal Recessive 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
SEQ6131 Homocystinuria due to cystathionine beta-synthase deficiency
SEQ6132 Homocystinuria due to cystathionine beta-synthase deficiency
SEQ6151 Hutchinson-Gilford Progeria
SEQ6095 Focal dermal hypoplasia
SEQ6061 Benign familial hypobetalipoproteinemia
SEQ6045 Hyperhomocysteinemia
SEQ6029 Hyperhomocysteinemia
SEQ5982 Hyper IgE
SEQ5981 Hydroletal Syndrome
SEQ5926 Hermansky-Pudlak syndrome
SEQ5927 Hermansky-Pudlak syndrome
SEQ5928 Hermansky-Pudlak syndrome
SEQ5929 Hermansky-Pudlak syndrome
SEQ5930 Hermansky-Pudlak syndrome
SEQ5919 Neonatal Hemangioma
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
SEQ5610 Phytosterolemia
SEQ5651 Galactosialidosis
SEQ5571 Juvenile hyaline fibromatosis
SEQ5501 Fabry disease
SEQ5265 Tuberous sclerosis
SEQ5266 Tuberous sclerosis
SEQ5267 Tuberous sclerosis
SEQ5212 Primary erythermalgia
SEQ5213 Primary erythermalgia
SEQ5231 Bullous ichthyosiform congenital erythroderma
SEQ5232 Bullous ichthyosiform congenital erythroderma
SEQ5241 Variable erythrokeratoderma, Mendes da Costa type
SEQ5211 Primary erythermalgia
SEQ5111 Junctional Epidermolysis Bullosa with Pyloric Atresia
SEQ5112 Simple Epidermolysis Bullosa
SEQ5121 Simple Epidermolysis Bullosa with Muscular Dystrophy
SEQ5093 Dystrophic Epidermolysis Bullosa
SEQ5103 Junctional Epidermolysis Bullosa
SEQ5104 Junctional Epidermolysis Bullosa
SEQ5105 Junctional Epidermolysis Bullosa
SEQ5106 Junctional Epidermolysis Bullosa
SEQ5082 Epidermodysplasia verruciformis
SEQ5083 Epidermodysplasia verruciformis
SEQ4871 Ehlers-Danlos type VIIC
SEQ4872 Ehlers-Danlos syndrome Musculocontractural type
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)
SEQ4870 Ehlers-Danlos syndrome type VI
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)
SEQ4864 Ehlers-Danlos syndrome type I / type II (classic)
SEQ4865 Ehlers-Danlos syndrome type I / type II (classic)
SEQ4345 Congenital dyskeratosis
SEQ4346 Congenital dyskeratosis
SEQ4347 Congenital dyskeratosis
SEQ4348 Congenital dyskeratosis
SEQ4341 Congenital dyskeratosis
SEQ4342 Congenital dyskeratosis
SEQ4343 Congenital dyskeratosis
SEQ4344 Congenital dyskeratosis
SEQ4279 X-linked Anhidrotic Ectodermal Dysplasia, Christ-Siemens-Touraine syndrome
SEQ4271 Ectodermal Dysplasia
SEQ4272 Ectodermal dysplasia - ectrodactyly - macular dystrophy (EEM syndrome)
SEQ4273 Ectodermal Dysplasia 2, Clouston type
SEQ4275 Autosomal Anhydrotic Ectodermal Dysplasia
SEQ4276 Autosomal Anhydrotic Ectodermal Dysplasia
SEQ4277 Anhidrotic Ectodermal Dysplasia with immune deficiency
SEQ4012 Desbuquois syndrome
SEQ3561 Interleukin 1 receptor antagonist deficiency
SEQ3461 Biotinidase deficiency
SEQ3132 Crouzon Syndrome with Acanthosis Nigricans
SEQ3141 Crouzon syndrome, syndrome
SEQ3351 Darier's disease
SEQ3131 Crouzon syndrome with Acanthosis Nigricans, mutation p.Ala391Glu FGFR3 gene
SEQ3081 Costello syndrome
SEQ2921 Cockayne syndrome
SEQ2922 Cockayne syndrome
SEQ2923 Cockayne syndrome
SEQ2861 Cinca Syndrome (Childhood Multisystemic Inflammatory Disease)
SEQ2831 Chediak-Higashi syndrome
SEQ2681 Canavan disease
SEQ2691 Cantú syndrome
SEQ2431 Bruck syndrome
SEQ2601 C syndrome
SEQ2421 BRESEK syndrome
SEQ2381 Branchial-oculo-facial syndrome
SEQ2341 Blau syndrome
SEQ2311 Síndrome de Birt-Hogg-Dube, mutaciones c.1285delC y c.1285dupC gen FLCN Birt-Hogg-Dube syndrome, c.1285delC and c.1285dupC mutations FLCN gene
SEQ2312 Birt-Hogg-Dube syndrome
SEQ2241 Bardet-Biedl syndrome type 1
SEQ2233 Bardet-Biedl syndrome type 13
SEQ2027 Autosomal dominant cutis laxa type 2B
SEQ2028 Autosomal dominant cutis laxa type 3A
SEQ2021 Autosomal dominant cutis laxa type 1
SEQ2022 Autosomal dominant cutis laxa type 2
SEQ2024 Autosomal dominant cutis laxa type 1B
SEQ2025 Autosomal dominant cutis laxa type 1C
SEQ2026 Autosomal dominant cutis laxa type 2A
SEQ2015 Familial autoinflammatory type Behcer-likem syndrome
SEQ1831 Pyogenic arthritis, pyoderma gangrenosum, acne
SEQ1781 Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations by FGFR2 gene sequencing
SEQ1711 Hereditary Angioedema
SEQ1712 Hereditary Angioedema
SEQ1471 Alpha-Thalassemia
SEQ1491 Glycogen storage due to muscle phosphofructokinase deficiency
SEQ1412 Albinism isolated and syndromic forms
SEQ1414 Oculocutaneous albinism type 2
SEQ1392 Hereditary angioedema
SEQ1351 Adams-Oliver syndrome
SEQ1352 Adams-Oliver syndrome
SEQ1356 Adams-Oliver syndrome
SEQ1263 Methylmalonic acidemia, vitamin B12 sensitive, type cbl B
SEQ1059 Neurofibromatosis
MLP3431 Tricho-rhino-phalangeal syndrome type 1 / Langer-Giedion syndrome
MLP3550 Waardenburg syndrome
MLP3401 Hereditary hemorrhagic telangiectasia, Primary pulmonary hypertension
MLP3031 Pseudoxanthoma elasticum
MLP3021 Porphyrias
MLP2743 Neurofibromatosis type 2
MLP2741 Neurofibromatosis type 1
MLP2742 Neurofibromatosis type 1
MLP2701 Nail Patella syndrome
MLP2561 Menkes syndrome
MLP2542 Marfan syndrome
MLP2205 Mediterranean fever family
MLP2151 Hyper-IgE syndrome
MLP2201 X-linked ichthyosis
MLP2001 Gorlin syndrome
MLP1831 Tuberous sclerosis 1
MLP1832 Tuberous sclerosis 2
MLP1870 Fabry disease
MLP1801 Ehlers-Danlos type III syndrome
MLP1802 Ehlers Danlos type VI syndrome
MLP1671 Branchio-oto-renal dysplasia
MLP1231 Birt-Hogg-Dube syndrome
MLP1031 Oculocutaneous albinism type II
EXN1167 Lymphatic Malformations and Related Diseases
EXN1162 Epidermolysis Bullosa
EXN1138 Progeria and Progeroid syndromes
EXN1127 Waardenburg syndrome
EXN1107 Albinism
EXN1110 Hermansky‐Pudlak syndrome
EXN1094 Cutis laxa
EXN1098 Connective tissue diseases
EXN1063 Ectodermal dysplasias
EXN1047 Hyperimmunoglobulin E syndrome
EXN1041 Hereditary Hemorrhagic Telangiectasia
EXN1031 Joint hypermobility
EXN1023 Congenital ichthyosis
EXN1017 Trichohepatoenteric syndrome
SEQ references correspond to studies performed using NIMSeq®
EXN references correspond to studies performed using ExoNIM®


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