| 1 | Achondroplasia | 63 | 0 | 3 | 63 |
| 2 | Allgrove syndrome | 4 | 0 | 1 | 4 |
| 3 | Androgen insensitivity syndrome | 10 | 4 | 3 | 14 |
| 4 | Aniridia | 22 | 0 | 16 | 22 |
| 5 | Arrhythmogenic right ventricular dysplasia 2 | 1 | 0 | 1 | 1 |
| 6 | Arrhythmogenic right ventricular dysplasia 9 | 3 | 2 | 2 | 5 |
| 7 | Autosomal recessive hereditary neuropathy (Charcot-Marie-Tooth disease, type 4B1) | 1 | 0 | 1 | 1 |
| 8 | Autosomal recessive infantile malignant osteopetrosis (OPTB1) | 9 | 0 | 6 | 9 |
| 9 | Autosomal recessive infantile malignant osteopetrosis (OPTB4) | 3 | 0 | 3 | 3 |
| 10 | Becker Muscular Dystrophy | 18 | 0 | 8 | 18 |
| 11 | Beta Thalassemia | 328 | 3335 | 26 | 3663 |
| 12 | Biotidinase Deficiency | 4 | 0 | 3 | 4 |
| 13 | Carbonic Anhydrase Deficiency II | 2 | 0 | 2 | 2 |
| 14 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy | 5 | 0 | 1 | 5 |
| 15 | Chronic infantile neurological cutaneous articular (CINCA) syndrome | 1 | 0 | 1 | 1 |
| 16 | Chronic Pancreatitis | 414 | 7 | 24 | 421 |
| 17 | Congenital cataract | 29 | 3 | 7 | 32 |
| 18 | Congenital erythropoietic porphyria (Gunther disease) | 2 | 2 | 2 | 4 |
| 19 | Congenital Generalized Lipodystrophy, Type 2 | 1 | 0 | 1 | 1 |
| 20 | Congenital Hereditary Endothelial Dystrophy 2 (CHED2) | 59 | 0 | 47 | 59 |
| 21 | Congenital nongoitrous hypothyroidism-4 (CHNG4) | 1 | 0 | 1 | 1 |
| 22 | Costello Syndrome | 1 | 0 | 1 | 1 |
| 23 | Crigler-Najjar Syndrome, type I | 1 | 0 | 1 | 1 |
| 24 | Cystic Fibrosis | 146 | 0 | 40 | 146 |
| 25 | Cystinosis nephropathic | 2 | 0 | 2 | 2 |
| 26 | Dilated cardiomyopathy with woolly hair and keratoderma (Carvajal syndrome) | 1 | 0 | 1 | 1 |
| 27 | Distal renal tubular acidosis | 2 | 0 | 1 | 2 |
| 28 | Duchenne Muscular Dystrophy | 370 | 0 | 88 | 370 |
| 29 | Dyggve-Melchior-Clausen | 2 | 0 | 1 | 2 |
| 30 | Dyskeratosis congenita | 2 | 0 | 2 | 2 |
| 31 | Factor V deficiency | 5 | 0 | 3 | 5 |
| 32 | Familial hypercholesterolemia (FH) | 48 | 1 | 10 | 49 |
| 33 | Familial tumoral calcinosis | 4 | 2 | 2 | 6 |
| 34 | Farber lipogranulomatosis | 3 | 0 | 2 | 3 |
| 35 | Focal dermal hypoplasia (Goltz syndrome) | 1 | 0 | 1 | 1 |
| 36 | Frasier syndrome | 2 | 0 | 2 | 2 |
| 37 | Friedreich ataxia 1 (FRDA) | 6 | 0 | 6 | 6 |
| 38 | Gelatinous drop-like corneal dystrophy | 75 | 2 | 9 | 80 |
| 39 | Gilbert Syndrome | 129 | 0 | 10 | 129 |
| 40 | Glanzmann Thrombasthenia | 61 | 0 | 51 | 61 |
| 41 | Glycogen storage disease Ia | 5 | 4 | 1 | 9 |
| 42 | Granular corneal dystrophy Type I | 2 | 2 | 1 | 4 |
| 43 | H syndrome | 2 | 0 | 2 | 2 |
| 44 | Haemophilia A | 193 | 0 | 84 | 193 |
| 45 | Haemophilia B | 128 | 0 | 100 | 128 |
| 46 | Haim Munk Syndrome | 12 | 0 | 3 | 12 |
| 47 | Hereditary Hypophosphatemic Ricket with Hypercalciuria | 2 | 3 | 2 | 5 |
| 48 | Hereditary Inclusion Body Myopathy 2 | 4 | 0 | 2 | 4 |
| 49 | Hermansky-Pudlak Syndrome 1 | 4 | 0 | 3 | 4 |
| 50 | Hermansky-Pudlak Syndrome 9 | 1 | 0 | 1 | 1 |
| 51 | Huntington Disease (HD) | 20 | 0 | 15 | 20 |
| 52 | Hypertrophic cardiomyopathy I | 24 | 2 | 7 | 26 |
| 53 | Hypofibrinogenemia | 1 | 0 | 1 | 1 |
| 54 | Hypohidrotic-Hair-Tooth type Ectodermal Dysplasia 10B | 15 | 24 | 8 | 39 |
| 55 | Incontinetia pigmenti | 6 | 0 | 1 | 6 |
| 56 | Isolated growth hormone deficiency (IGHD) type IA | 12 | 23 | 2 | 35 |
| 57 | Isolated growth hormone deficiency (IGHD) type IB | 17 | 12 | 1 | 29 |
| 58 | Keratoconus | 1 | 0 | 1 | 1 |
| 59 | Lafora Disease | 20 | 0 | 12 | 20 |
| 60 | Lattice corneal dystrophy Type I | 37 | 3 | 9 | 40 |
| 61 | Leber congenital amaurosis | 6 | 6 | 4 | 12 |
| 62 | Leber congenital amaurosis 2 | 5 | 4 | 3 | 9 |
| 63 | Macular Corneal Dystrophy | 135 | 0 | 65 | 135 |
| 64 | Megaloblastic Anemia | 15 | 0 | 6 | 15 |
| 65 | Menkes Disease | 2 | 0 | 2 | 2 |
| 66 | Microspheropakia | 4 | 0 | 2 | 4 |
| 67 | Myotonic Dystrophy (DM) | 12 | 0 | 12 | 12 |
| 68 | Myotubular Myopathy | 6 | 0 | 3 | 6 |
| 69 | Nance-Horan Syndrome | 8 | 11 | 1 | 19 |
| 70 | Neurodegeneration with Brain Iron Accumulation, Type 1 | 5 | 0 | 4 | 5 |
| 71 | Non-syndromic Hearing Loss (DFNB1A) | 324 | 24 | 26 | 348 |
| 72 | Non-syndromic Hearing Loss (DFNB3) | 3 | 0 | 3 | 3 |
| 73 | Oculocutaneous Albinism type 1 (OCA1) | 72 | 0 | 18 | 72 |
| 74 | Oculocutaneous Albinism type 2 (OCA2) | 13 | 0 | 8 | 13 |
| 75 | Oculocutaneous Albinism type 3 (OCA3) | 2 | 0 | 2 | 2 |
| 76 | Oculocutaneous Albinism type 4 (OCA4) | 11 | 0 | 7 | 11 |
| 77 | Papillon-Lefevre syndrome | 10 | 0 | 6 | 10 |
| 78 | Parkinson Disease (PD) | 21 | 0 | 13 | 21 |
| 79 | Permanent neonatal Diabetes Mellitus | 2 | 0 | 1 | 2 |
| 80 | Peutz-Jeghers syndrome | 2 | 0 | 2 | 2 |
| 81 | Porphyria | 14 | 0 | 2 | 14 |
| 82 | Primary Angle Closure Glaucoma (PACG) | 11 | 0 | 4 | 11 |
| 83 | Primary Congenital Glaucoma (PCG) | 168 | 0 | 61 | 168 |
| 84 | Primary Open Angle Glaucoma (POAG) | 76 | 0 | 35 | 76 |
| 85 | Pure Gonadal Dystrophy | 12 | 0 | 9 | 12 |
| 86 | Purpura | 3 | 0 | 3 | 3 |
| 87 | Renal Cysts and Diabetes (RCAD) Syndrome | 1 | 0 | 1 | 1 |
| 88 | Retinitis Pigmentosa (RP) | 26 | 0 | 11 | 26 |
| 89 | Rett Syndrome | 6 | 0 | 6 | 6 |
| 90 | Rhizomelic Chondrodysplasia Punctata type 1 | 4 | 0 | 3 | 4 |
| 91 | Spinocerebellar ataxia 1 (SCA1) | 12 | 0 | 12 | 12 |
| 92 | Spinocerebellar ataxia 12 (SCA12) | 1 | 0 | 32 | 37 |
| 93 | Spinocerebellar ataxia 2 (SCA2) | 58 | 0 | 18 | 74 |
| 94 | Spinocerebellar ataxia 3 (SCA3) | 8 | 0 | 8 | 8 |
| 95 | Spinocerebellar ataxia 6 (SCA6) | 4 | 0 | 2 | 4 |
| 96 | Spinocerebellar ataxia 7 (SCA7) | 6 | 0 | 5 | 6 |
| 97 | Terminal 4q deletion syndrome | 1 | 0 | 1 | 1 |
| 98 | Transient neonatal diabetes | 4 | 1 | 1 | 5 |
| 99 | Usher Syndrome type I | 6 | 0 | 2 | 6 |
| 100 | Venous thrombosis | 19 | 0 | 1 | 19 |
| 101 | Wilson Disease (WD) | 112 | 0 | 52 | 112 |
| 102 | X-linked agammaglobulinemia | 2 | 0 | 1 | 2 |
| 103 | X-linked hypohidrotic ectodermal dysplasia 1 | 13 | 7 | 11 | 20 |
| 104 | X-linked hypophosphatemic rickets | 2 | 0 | 1 | 2 |
| Total | 3574 | 3484 | 1118 | 7113 |