Название:
Автор:
Жанр:
Серия:
Издательство:
Long QT syndrome 1 (LQT1)
| Lymphedema, hereditary, III (LMPH3) | PIEZO1 | AR | 1 | 1 | 0 | 0 | 0 | 0 |
| Lymphoproliferative syndrome, X‐linked, 1 (XLP1) | SH2D1A | XL | 1 | 1 | 2 | 3 | 2 | 2 |
| Lysosomal acid lipase deficiency | LIPA | AR | 2 | 2 | 2 | 4 | 2 | 2 |
| Machado–Joseph disease (MJD) | ATXN3 | AD | 4 | 7 | 6 | 8 | 6 | 6 |
| Macular dystrophy, vitelliform, 2 (VMD2) | BEST1 | AD | 1 | 1 | 1 | 1 | 1 | 1 |
| Maple syrup urine disease (MSUD) | BCKDHB | AR | 1 | 2 | 2 | 2 | 1 | 1 |
| Marfan syndrome (MFS) | FBN1 | AD | 30 | 58 | 46 | 78 | 27 | 21 |
| Marinesco–Sjogren syndrome (MSS) | SIL1 | AR | 1 | 3 | 3 | 5 | 1 | 1 |
| Meckel syndrome, type 1 (MKS1) | MKS1 | AR | 2 | 5 | 5 | 9 | 2 | 2 |
| Meckel syndrome, type 4 (MKS4) | CEP290 | 4 | 6 | 6 | 10 | 4 | 4 | |
| Meckel syndrome, type 6 (MKS6) | CC2D2A | AR | 2 | 5 | 5 | 9 | 2 | 2 |
| Meckel syndrome, type 6 (MKS6) | CCD2DA2 | AR | 1 | 1 | 1 | 2 | 1 | 1 |
| Meckel syndrome, type 8 (MKS8) | TCTN2 | AR | 1 | 1 | 2 | 2 | 1 | 1 |
| Mental retardation, autosomal dominant 35 (MRD35) | PPP2R5 | AD | 1 | 1 | 2 | 2 | 1 | 1 |
| Mental retardation, autosomal recessive 38 (MRT38) | HERC2 | AR | 1 | 2 | 2 | 3 | 1 | 1 |
| Metachromatic leukodystrophy due to saposin B deficiency | PSAP | AR | 1 | 1 | 0 | 0 | 0 | 0 |
| Metachromatic leukodystrophy (MLD) | ARSA | AR | 3 | 4 | 3 |
|
